Especialidade:
           

Hereditary Breast Cancer and Ovarian Cancer

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 37 genes which c... Ver maisause hereditary cancer, including the main genes which cause hereditary breast and ovary cancers.

Genes Analisados: APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A... Ver mais CHEK2 EGFR EPCAM FANCC FANCM MEN1 MET MLH1 MSH2 MSH3 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD51C RAD51D RECQL RET STK11 TP53
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Tempo estimado de entrega do resultado:
20 dias
           

Whole Genome Sequencing

“Whole Genome Sequencing” is the most comprehensive test based on Next Generation Sequencing (NGS), which analyzes intronic and exonic regions of the 20,000 genes in the human genom... Ver maise, non-coding regions (including regulatory sequences), CNVs (Copy Number Variation) and mitochondrial DNA. This test is a powerful tool for diagnosing thousands of genetic diseases. It is important to emphasize that Whole Genome Sequencing does not identify genetic diseases that are caused by nucleotide expansions, uniparental disomy (UPD) or imprinting. Furthermore, despite being the most comprehensive genetic test, about 85% of genetic variations that cause disease are located in the exons, covered by the Whole Exome Sequencing test.

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Tempo estimado de entrega do resultado:
60 dias
           

Whole Exome Sequencing

“Whole Exome Sequencing” or “WES” is a Next Generation Sequencing (NGS) test that simultaneously analyzes nearly all the exons of the 20,000 genes in the human genome + CNVs (Co... Ver maispy Number Variation) + mitochondrial DNA. Although exons represent 2% of the genome, about 85% of the genetic variations that cause disease are located in these regions. This test is a powerful tool for diagnosing thousands of genetic diseases. The test can be requested for patients with suspected genetic diseases (for example: skeletal dysplasias and muscular dystrophies) and for patients with a clinical condition that is suggestive of a genetic disease, but without a specific suspicion (Example: intellectual disability, congenital anomalies etc). WES can also be requested when there is a clinical condition that can be caused by multiple different genes, for which there is no panel containing all the genes of interest. It is important to emphasize that WES does not identify genetic diseases that are caused by nucleotide expansions, variations in non-coding regions of the genome, uniparental disomy (UPD) or imprinting. The Mendelics WES test is very comprehensive, including the analysis of point mutations (substitutions), indels (small insertions and deletions), CNVs (Copy Number Variation) and mitochondrial DNA.

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Tempo estimado de entrega do resultado:
30 dias
           

Melanoma and Other Skin Cancers Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with hereditary forms of melanoma and other types of skin and associated cancers.

Genes Analisados: ACD ATM BAP1 BARD1 BLM BRCA1 BRCA2 BRIP1 CDK4 CDKN2A CHEK2 CYLD... Ver mais DDB2 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FH FLCN GLMN MBD4 MLH1 MSH2 MSH6 PALB2 PMS2 POLD1 POLE POLH POT1 PTCH1 RAD51C RAD51D RECQL RSPO1 TERF2IP TGFBR1 TMC6 TMC8 TP53 XPA XPC
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Tempo estimado de entrega do resultado:
20 dias
           

Ichthyosis and Ectodermal Dysplasia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 58 genes associa... Ver maisted to different forms of ichthyosis and ectodermal dysplasias, including Sjögren-Larsson syndrome.

Genes Analisados: ABCA12 ABHD5 ALDH3A2 ALOX12B ALOXE3 AP1S1 AQP5 CAST CDH1 CDH3 CDSN CERS3... Ver mais CLDN1 COG6 CSTA CYP4F22 DLX3 EBP EDA EDAR EDARADD ELOVL1 ELOVL4 ERCC2 FLG GJA1 GJB2 GJB3 GJB4 GJB6 GRHL2 HOXC13 HR IFT122 ITPR2 JUP KDF1 KDSR KREMEN1 KRT1 KRT10 KRT14 KRT2 KRT74 KRT85 KRT9 LIPN LORICRIN MBTPS2 MSX1 NECTIN1 NECTIN4 NFKBIA NIPAL4 NLRP1 PHYH PKP1 PNPLA1 POMP PRKD1 SDR9C7 SERPINB7 SERPINB8 SLC27A4 SMARCAD1 SNAP29 SPINK5 ST14 STS SULT2B1 SUMF1 TGM1 TP63 TWIST2 VPS33B WNT10A ZMPSTE24
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Tempo estimado de entrega do resultado:
28 dias
           

Epidermolyisis Bullosa

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 25 genes causing... Ver mais epidermolysis bullosa.

Genes Analisados: AAGAB AQP5 ATP2C1 CAST CD151 CDSN CHST8 COL17A1 COL7A1 CSTA CTSC DSG1... Ver mais DSP DST ENPP1 EXPH5 FERMT1 FLG2 GJB6 ITGA3 ITGA6 ITGB4 JUP KANK2 KLHL24 KRT1 KRT10 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT6C KRT9 LAMA3 LAMB3 LAMC2 MMP1 PKP1 PLEC POMP RHBDF2 RSPO1 SERPINB7 SERPINB8 SLURP1 TGM5 TRPV3
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Tempo estimado de entrega do resultado:
28 dias
           

Customized Sequencing

For Mendelian diseases which are not covered by the listed tests, Mendelics may conduct the complete sequencing (exons and flanking intronic regions) and evaluation of the number of cop... Ver maisies (CNV) through next generation sequencing (NGS) of specific genes on a customized assay.

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Tempo estimado de entrega do resultado:
28 dias
           

Pancreatitis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Ver maisssociated with hereditary forms of recurrent pancreatitis, including 9 genes related to hyperlipoproteinemia.

Genes Analisados: APOA5 APOC2 CASR CFTR CPA1 CTRC GPIHBP1 LMF1 LPL PRSS1 SPINK1 TRPV6
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Tempo estimado de entrega do resultado:
28 dias
           

Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA)

The Mitochondrial Disease Panel (Nuclear and Mitochondrial DNA) analyzes, through the NGS technique, genes related to mitochondrial diseases caused both by nuclear DNA and mitochondrial... Ver mais DNA mutations, including mitochondrial complex deficiencies, oxidative phosphorylation defects, mitochondrial depletion syndromes, Leigh syndrome, MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis and apoplexy-like episodes), Leber’s hereditary optic neuropathy, among others.

Genes Analisados: AARS2 ABAT ABCB7 ACACA ACAD9 ACADM ACADVL ACAT1 ACO2 ADAR AFG3L2 AGK... Ver mais AIFM1 AK2 ALDH3A2 AMT APTX ATP5F1A ATP5F1D ATP5F1E ATP7A ATP7B ATPAF2 AUH BAG3 BCS1L BOLA3 BTD C19orf12 C1QBP CA5A CARS2 CEP89 CHAT CHCHD10 CHKB CLPB CLPP COA3 COA5 COA6 COA7 COA8 COASY COQ2 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 COX10 COX14 COX15 COX20 COX4I1 COX4I2 COX5A COX6B1 COX7B COX8A CPS1 CPT1A CYC1 CYCS D2HGDH DARS2 DDC DES DGUOK DLAT DLD DNA2 DNAJC19 DNM1L EARS2 ECHS1 ELAC2 ETFA ETFB ETFDH ETHE1 FARS2 FASTKD2 FBXL4 FDX2 FDXR FH FLAD1 FOXRED1 GAMT GARS1 GATB GATC GATM GCDH GDAP1 GFER GFM1 GFM2 GLDC GLRX5 GTPBP3 GYG2 HADH HADHA HADHB HARS2 HCCS HIBCH HLCS HMGCL HMGCS2 HSD17B10 HSPD1 HTRA2 IARS1 IARS2 IBA57 IDH2 IDH3B IFIH1 ISCA1 ISCA2 ISCU KARS1 L2HGDH LAMP2 LARS2 LIAS LIPT1 LIPT2 LMBRD1 LONP1 LRPPRC LYRM4 LYRM7 MARS2 MDH2 MECR MFF MFN2 MGME1 MICOS13 MICU1 MIPEP MOCS1 MPC1 MPV17 MRM2 MRPL12 MRPL3 MRPL44 MRPS14 MRPS16 MRPS2 MRPS22 MRPS23 MRPS34 MRPS7 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TA MT-TC MT-TD MT-TE MT-TF MT-TG MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM MT-TN MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TV MT-TW MT-TY MTFMT MTHFD1 MTO1 MTPAP MTRFR NADK2 NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFS1 NFU1 NGLY1 NNT NR2F1 NSUN3 NUBPL NUP62 OGDH OPA1 OPA3 OTC OXCT1 PANK2 PARS2 PC PCCA PCCB PCK2 PDHA1 PDHB PDHX PDK3 PDP1 PDSS1 PDSS2 PET100 PET117 PINK1 PITRM1 PMPCA PMPCB PNKD PNPLA8 PNPT1 POLG POLG2 POP1 PPA2 PPOX PSAP PTCD3 PUS1 QRSL1 RANBP2 RARS1 RARS2 REEP1 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RRM2B RTN4IP1 SACS SAMHD1 SARS2 SCN1A SCO1 SCO2 SDHA SDHAF1 SDHB SDHC SDHD SERAC1 SFXN4 SLC19A2 SLC19A3 SLC22A5 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A21 SLC25A22 SLC25A26 SLC25A3 SLC25A32 SLC25A38 SLC25A4 SLC25A42 SLC25A46 SLC39A8 SLC52A2 SLC52A3 SLC6A8 SPAST SPG7 STAT2 STXBP1 SUCLA2 SUCLG1 SUGCT SUOX SURF1 TACO1 TAFAZZIN TANGO2 TARS2 TFAM TIMM22 TIMM50 TIMM8A TIMMDC1 TK2 TMEM126A TMEM126B TMEM70 TOP3A TPK1 TREX1 TRIT1 TRMT10C TRMT5 TRMU TRNT1 TSFM TTC19 TUFM TWNK TXN2 TYMP UQCC2 UQCC3 UQCRB UQCRC2 UQCRQ VARS2 WARS2 WDR45 WFS1 XPNPEP3 YARS2 YME1L1
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Tempo estimado de entrega do resultado:
28 dias
           

Hereditary Colorectal Cancer Panel

This panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 42 genes associated... Ver mais with hereditary gastric and colorectal cancer (forms with or without polyposis). The PMS2 gene is fully analyzed, however its analysis is subject to pseudogene interference.

Genes Analisados: APC ATM AXIN2 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A... Ver mais CHEK2 EGFR EPCAM FANCC IPMK MBD4 MEN1 MET MLH1 MSH2 MSH3 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PTEN RABL3 RAD51C RAD51D RECQL RET RNF43 RPS20 SMAD4 STK11 TP53
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Tempo estimado de entrega do resultado:
20 dias
           

Hemochromatosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais the pathologic iron accumulation. This test sequences all the codifying regions of the investigated genes, not only the two common variants of HFE gene (H63D and C282Y).

Genes Analisados: CP FTH1 FTL HAMP HFE HJV SLC40A1 TFR2
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Tempo estimado de entrega do resultado:
28 dias
           

Chronic Cholestatic Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of alfa-1-antitrips... Ver maisina genes related to Progressive Familial Intrahepatic Cholestasis (PFIC) and differential diagnoses such as cystic fibrosis and alpha-1-antitrypsin deficiency.

Genes Analisados: ABCB11 ABCB4 ABCC2 ABCD3 ABCG5 ABCG8 ACOX1 ACOX2 ADK AKR1D1 ALAS2 ALDOB... Ver mais ALG1 ALG8 AMACR ANKS6 AP1S1 ARG1 ASS1 ATP6AP1 ATP7B ATP8B1 B4GALT1 BAAT BCS1L BLVRA CC2D2A CCDC115 CDAN1 CFTR CLDN1 CLPX COG6 COG7 CTNS CYP27A1 CYP7A1 CYP7B1 DCDC2 DGUOK DHCR7 FAH FECH FH G6PD GALE GALT GLI2 GLIS3 GNAS HADHA HADHB HNF1A HNF1B HSD17B4 HSD3B7 INVS ITCH JAG1 KIF12 KMT2D LIPA LSR MKS1 MMACHC MOV10 MPV17 MVK MYO5B NEK8 NOTCH2 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NR1H4 OTC PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PKD1L1 PKHD1 POLG POMC PPM1F PTF1A RFX6 SC5D SCP2 SCYL1 SEMA7A SERAC1 SERPINA1 SLC10A1 SLC10A2 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC27A5 SLC30A10 SLC51A SLC51B SLCO1B3 SMPD1 SMS STXBP2 TALDO1 TBX19 TFAM TFR2 TJP2 TMEM216 TRAPPC11 TRMU TSFM TWNK UGT1A1 USP53 UTP4 VIPAS39 VMA21 VPS33B VPS50 WDR83OS ZFYVE19
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Tempo estimado de entrega do resultado:
28 dias
           

Alagille Syndrome (20p12 region MLPA or JAG1 MLPA)

This MLPA test identifies microdeletions or microduplications in JAG1 gene and allows the diagnosis of individuals with clinical suspicious of Alagille syndrome. The Alagille syndrome... Ver mais is a disease which may affect the liver, the heart and other parts of the body. Variants detected only in JAG1 gene sequencing test cause Alagille syndrome in about 90% of the cases. Other 7% of the individuals with the syndrome are carriers of microdeletions in chromosome 20 (20p12), which include JAG1.

Genes Analisados: JAG1
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Tempo estimado de entrega do resultado:
75 dias
           

Treatable Disorders Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes which caus... Ver maise rare diseases of early onset and with available treatment. This panel includes all the Innate Metabolism Errors Panel genes, in addition to the analysis of genes for other rare disease classes, with neurological, immunological, hematological, metabolic, endocrine, renal, hepatic and gastrointestinal manifestations. The panel is recommended to diagnose symptomatic patients or those with altered results in other laboratory tests.

Genes Analisados: AAAS ABCB11 ABCB4 ABCC6 ABCC8 ABCD1 ABCD3 ABCD4 ABCG5 ABCG8 ACAD8 ACADM... Ver mais ACADVL ACAT1 ACOX2 ACSF3 ADA ADAMTS13 AGL AGRN AHCY AICDA AK2 AKR1D1 ALAD ALAS2 ALDH7A1 ALDOA ALDOB ALG14 ALG2 ALPL AMACR AMN AMT APOA5 APOB APOC2 AQP2 ARG1 ARPC1B ARSA ARSB ASCC3 ASL ASS1 ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATP8B1 AVPR2 B2M BAAT BCKDHA BCKDHB BCKDK BCL10 BLNK BSND BTD BTK C3 CA5A CACNA1S CAD CARD11 CARMIL2 CASP8 CASR CBLIF CBS CD247 CD27 CD320 CD3D CD3E CD3G CD40 CD40LG CD70 CD79A CD79B CDCA8 CFP CFTR CHAT CHD8 CHRNA1 CHRNB1 CHRND CHRNE CIITA CLCN7 CLCNKA CLCNKB CLDN16 CLDN19 CLPB CNNM2 COL13A1 COL1A1 COL1A2 COLQ COQ2 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 CORO1A CPOX CPS1 CPT1A CPT2 CSF3R CTLA4 CTNS CTPS1 CUBN CXCR2 CXCR4 CYBA CYBB CYBC1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP27A1 CYP27B1 CYP2R1 CYP7B1 DBT DCLRE1C DDC DGAT1 DHFR DLD DMD DMP1 DNAJC12 DNAJC21 DOCK2 DOCK8 DOK7 DPAGT1 DUOX2 DUOXA2 EFL1 EIF6 ELANE ENPP1 EPO ERCC6L2 ETFA ETFB ETFDH F13A1 F13B F2 F8 F9 FAAP24 FAH FAS FASLG FBP1 FECH FERMT3 FGA FGF23 FGFR3 FLAD1 FOLR1 FOXA2 FOXE1 FOXN1 FOXP3 G6PC1 G6PC3 G6PD GAA GALC GALE GALK1 GALM GALNS GALT GAMT GATA1 GATA2 GATM GBA1 GBE1 GCDH GCH1 GCK GCSH GFI1 GFPT1 GGCX GH1 GHR GHRHR GJB2 GJB6 GLA GLDC GLI2 GLIS3 GLRA1 GLRB GLUD1 GOT2 GPIHBP1 GUSB GYS1 GYS2 HADH HADHA HADHB HAVCR2 HAX1 HBB HCFC1 HEATR3 HK1 HLCS HMBS HMGCL HMGCS2 HPD HSD3B2 HSD3B7 HYOU1 IDS IDUA IFNG IFNGR1 IFNGR2 IGHM IGLL1 IGSF1 IKBKB IL12B IL12RB1 IL12RB2 IL18BP IL23R IL2RA IL2RB IL2RG IL7R IMPDH2 INO80 INS INSR IRAK1 IRAK4 IRF4 IRF8 IRS4 ITGB2 ITK ITPKB IVD IYD JAGN1 JAK1 JAK3 KCNJ1 KCNJ11 KCNQ2 KCNT1 LAMA5 LAMB2 LAT LCK LCP2 LCT LDHA LDLR LDLRAP1 LEP LHX3 LHX4 LIPA LMBRD1 LMF1 LPL LRP4 LYN LYST MAGED2 MAGT1 MALT1 MAML2 MAMLD1 MAN2B1 MAP3K14 MC2R MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MOCS1 MPI MPL MRAP MTHFD1 MTHFR MTM1 MTR MTRR MTTP MUSK MYD88 MYH9 MYO5B MYO9A MYSM1 NAGLU NAGS NCF2 NCF4 NEUROG3 NFKB1 NKX2-1 NKX2-5 NNT NPC1 NPC2 NR0B1 NR1H4 NR5A1 NTN1 ORAI1 OTC OTX2 OXCT1 PAH PAX1 PAX8 PC PCBD1 PCCA PCCB PCK1 PCSK1 PCSK9 PDSS1 PDSS2 PDX1 PDXK PFKM PGAM2 PGM1 PGM3 PHEX PHGDH PHKA1 PHKA2 PHKB PHKG2 PIK3CD PIK3R1 PKLR PLAGL1 PLEC PLPBP PNP PNPO POLD1 POLD2 POMC POR POU1F1 POU2AF1 PPOX PREPL PRF1 PRKCD PROP1 PSAT1 PSPH PTF1A PTPRC PTS PURA PYGL PYGM QDPR RAB27A RAC2 RAG1 RAG2 RAPSN RASGRP1 RB1 RC3H1 RFX5 RFXANK RFXAP RHOG ROBO1 RORC RPH3A RPL10 RPL10A RPL11 RPL15 RPL18 RPL19 RPL26 RPL27 RPL3 RPL31 RPL34 RPL35 RPL35A RPL5 RPL8 RPLP0 RPS10 RPS11 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RYR1 SASH3 SBDS SCN4A SCNN1A SCNN1B SCNN1G SEMA7A SH2D1A SH3KBP1 SI SLC12A1 SLC16A1 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A32 SLC25A36 SLC26A3 SLC26A4 SLC26A7 SLC2A1 SLC2A2 SLC31A1 SLC34A3 SLC35A2 SLC37A4 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC46A1 SLC51A SLC52A2 SLC52A3 SLC5A1 SLC5A5 SLC5A6 SLC5A7 SLC6A5 SLC6A6 SLC7A7 SLC7A9 SMN1 SMPD1 SNAP25 SORD SOX3 SP110 SPI1 SPPL2A SPR SRP54 SRP72 STAR STAT1 STX11 STXBP2 SYT2 TANGO2 TAP1 TAP2 TAPBP TAT TBL1X TBX19 TBX21 TCF3 TCN2 TEFM TFRC TG TH THAP11 THRA TIRAP TJP2 TK2 TOP2B TOR1AIP1 TPK1 TPO TPP1 TRH TRHR TRPM6 TSC1 TSC2 TSHB TSHR TSR2 TTPA TUBB1 TYK2 UCP2 UGT1A1 UNC13A UNC13D UNG UROD UROS USP53 VAMP1 VDR VKORC1 VPS45 WAS WIPF1 XIAP ZAP70 ZFP57 ZFYVE19 ZNF143 ZNF808 ZNRF3
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Tempo estimado de entrega do resultado:
21 dias
           

Polycystic Kidney Disease Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 49 genes associa... Ver maisted to polycystic renal diseases, including PKD1 (Polycystic Kidney Disease type 1), PKD2 (Polycystic Kidney Disease type 2), PKHD1 (Polycystic Kidney and Liver Disease) and NOTCH2 (Hajdu-Cheney Syndrome).

Genes Analisados: ALG5 ALG8 ALG9 ANKS6 CEP164 CEP290 CEP83 CEP89 COL4A1 CRB2 DCDC2 DICER1... Ver mais DNAJB11 DZIP1L GANAB GLIS2 HNF1B IFT140 IFT172 INVS IQCB1 JAG1 LRP5 MAPKBP1 MUC1 NEK8 NOTCH2 NPHP1 NPHP3 NPHP4 OFD1 PAX2 PKD1 PKD2 PKHD1 PRKCSH REN RPGRIP1L SDCCAG8 SEC61A1 SEC63 TMEM67 TSC1 TSC2 TTC21B UMOD VHL WDR19 ZNF423
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Tempo estimado de entrega do resultado:
28 dias
           

Nephrotic Syndrome Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 70 genes more fr... Ver maisequently associated with the hereditary forms of nephrotic syndrome, including Alport Syndrome and Focal segmental glomerulosclerosis (FSGS).

Genes Analisados: ACTN4 ADGRE1 ANLN APOL1 ARHGAP24 ARHGDIA ARHGEF17 AVIL CD2AP CFH CLCN5 COL4A3... Ver mais COL4A4 COL4A5 COQ2 COQ6 COQ8B CRB2 DAAM2 DGKE EMP2 FAT1 FN1 GON7 IFIH1 IL36G INF2 ITGA3 KANK1 KANK2 KIRREL1 LAGE3 LAMA5 LAMB2 LMX1B MAFB MAGI2 MYH9 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93 OCRL OSGEP PAX2 PDSS2 PLCE1 PMM2 PTPRO SCARB2 SGPL1 SLC17A5 SMARCAL1 TBC1D8B TP53RK TPRKB TRIM8 TRPC6 TTC21B WDR4 WDR73 WNK4 WT1 XPO5 YRDC
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Tempo estimado de entrega do resultado:
28 dias
           

Kidney Function Disorders Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 264 genes relate... Ver maisd to different treatable disorders of the renal function, including Bartter syndrome, Liddle syndrome, nephrogenic diabetes insipidus, Hypomagnesemia, renal tubular acidosis, Gittelman syndrome, Fabry disease, among others.

Genes Analisados: ACE ACTN4 ADAMTS9 ADCY10 AGT AGTR1 AGXT AHI1 ALG5 ALG8 ALG9 ALMS1... Ver mais ANKS6 ANLN APOA1 APOL1 APRT AQP2 ARHGAP24 ARHGDIA ARL13B ARL6 ARMC9 ATP6V0A4 ATP6V1B1 ATP6V1C2 AVIL AVPR2 B2M B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BMP4 BMP7 BNC2 BSND C2CD3 CA2 CASR CC2D2A CD151 CD2AP CDC5L CEP104 CEP120 CEP164 CEP290 CEP41 CEP83 CFAP418 CHD7 CLCN5 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CNNM2 COL4A1 COL4A3 COL4A4 COL4A5 COQ2 COQ6 COQ8B CPLANE1 CRB2 CSPP1 CTNS CTU2 CYP24A1 DAAM2 DCDC2 DGKE DHCR7 DLG5 DNAJB11 DSTYK DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EGF EHHADH EMP2 EYA1 FAH FAN1 FAT1 FGA FGF20 FN1 FOXC1 FRAS1 FREM1 FXYD2 GANAB GATA3 GATM GLA GLIS2 GON7 GPC3 GREB1L GRHPR GSN HNF1B HNF4A HOGA1 HPRT1 HPSE2 HSD11B2 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT80 IFT81 INF2 INPP5E INVS IQCB1 ITGA3 ITGA8 JAG1 KANK1 KANK2 KAT6B KCNJ1 KCNJ10 KCTD1 KIF14 KIRREL1 KMT2D LAGE3 LAMA5 LAMB2 LCAT LMX1B LRP4 LYZ LZTFL1 MAFB MAGED2 MAGI2 MAPKBP1 MKKS MKS1 MUC1 MYH9 MYO1E NEK1 NEK8 NHERF1 NIPBL NLRP3 NOS1AP NOTCH2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NRIP1 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93 OCRL OFD1 OSGEP PAX2 PBX1 PDSS2 PHEX PKD1 PKD2 PKHD1 PLCE1 PMM2 PTPRO REN RET ROBO1 ROBO2 RPGRIP1L SALL1 SALL4 SARS2 SCARB2 SCNN1A SCNN1B SCNN1G SDCCAG8 SEC61A1 SGPL1 SIX1 SIX2 SIX5 SLC12A1 SLC12A3 SLC17A5 SLC22A12 SLC2A2 SLC2A9 SLC34A1 SLC34A3 SLC3A1 SLC41A1 SLC4A1 SLC4A4 SLC5A2 SLC7A9 SMARCAL1 SOX17 TBC1D8B TBX18 TCTN3 TMEM107 TMEM138 TMEM216 TMEM237 TMEM67 TP53RK TPRKB TRIM32 TRIM8 TRPC6 TRPM6 TSC1 TSC2 TTC21B TTC8 TTR UMOD VHL VIPAS39 VPS33B WDR19 WDR35 WDR4 WDR73 WNK4 WNT4 WT1 XDH XPNPEP3 XPO5 YRDC ZMYM2 ZNF423
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Tempo estimado de entrega do resultado:
28 dias
           

Hemolytic-Uremic Syndrome Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 6 main genes ass... Ver maisociated with susceptibility to atypical hemolytic-uremic syndrome.

Genes Analisados: C3 CD46 CFB CFH CFI THBD
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Tempo estimado de entrega do resultado:
28 dias
           

Comprehensive Kidney Diseases Panel

This comprehensive panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes... Ver mais related to different kidney disorders, including Bartter syndrome, Liddle syndrome, nephrogenic diabetes insipidus, Hypomagnesemia, renal tubular acidosis, Gittelman syndrome, Fabry disease, Nephrotic Syndrome, Hemolytic-Uremic Syndrome, Polycystic renal diseases, Hajdu-Cheney Syndrome, among others. The MUC1 gene, associated with cystic renal medullary disease type 1 (MCKD1), is also analyzed. Pathogenic variants that affect variable number tandem repeats (VNTR) in this gene are difficult to detect by NGS sequencing techniques. This exam employs long-read sequencing, capable of accurately evaluating repetitive regions of the MUC1 gene.

Genes Analisados: ABCC6 ABCG5 ACE ACTA2 ACTB ACTG2 ACTN4 ADAMTS13 ADAMTS3 ADAMTS9 ADAMTSL1 ADGRE1... Ver mais AFF3 AGT AGTR1 AGXT AHI1 ALG5 ALG6 ALG8 ALG9 ALMS1 AMMECR1 ANGPT2 ANKRD11 ANKS6 ANLN APC APOA1 APOL1 APRT AQP11 AQP2 ARHGAP24 ARHGDIA ARHGEF17 ARL13B ARL3 ARMC9 ARNT2 ATN1 ATP5F1A ATP6V0A4 ATP6V1B1 ATP6V1C2 ATP7A ATRX AVIL B2M B4GAT1 B9D2 BBS2 BCORL1 BMP7 BMPER BNC2 BRD4 BSND BUB1B C1QA C1QB C1QBP C1QC C2CD3 C3 CA2 CACHD1 CAD CAPN15 CASR CC2D2A CCBE1 CCNQ CD151 CD2AP CD46 CDC25A CDC42BPB CDC5L CDC73 CDKN1C CDX2 CELSR3 CENPF CEP104 CEP120 CEP164 CEP290 CEP41 CEP55 CEP78 CEP83 CFB CFH CFHR1 CFHR2 CFHR3 CFHR4 CFHR5 CFI CHD7 CHRM3 CHRNA3 CHST14 CISD2 CLCN5 CLCN7 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CNNM2 COG6 COL4A1 COL4A3 COL4A4 COL4A5 COQ2 COQ6 COQ8B CPLANE1 CPT1A CPT2 CRB2 CSPP1 CTNS CTR9 CTU2 CYB561 CYP24A1 CYS1 DAAM2 DACT1 DCDC2 DCHS1 DDX54 DDX59 DGKE DHCR7 DHX16 DHX34 DHX8 DIS3L2 DLG5 DNAJB11 DNASE1L3 DSTYK DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EBF3 EBP EFCAB12 EGF EHHADH EHMT1 EIF2AK3 ELOC ELP1 EMILIN1 EMP2 EP300 EPG5 EPHB4 ERCC4 ERCC6 ERCC8 ESCO2 ETFA ETFB ETFDH ETV4 EXOC3L2 EYA1 FAH FAM20A FAM50A FAN1 FARSB FGA FGF20 FIBP FLCN FLNA FLNB FMN1 FN1 FNIP1 FOXC1 FOXD2 FOXI1 FRAS1 FREM1 FXYD2 FZD2 G6PC1 GANAB GATA3 GATM GEMIN4 GFRA1 GLA GLB1 GLIS2 GLIS3 GON7 GPC3 GREB1L GRHPR GRK2 GSN GSTZ1 HAAO HDAC8 HGD HMGA2 HNF1B HNF4A HOGA1 HOXA11 HPRT1 HPS1 HPSE2 HRAS HS2ST1 HSD11B2 HSD17B4 HSD3B2 HSPA4L IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IL36G INF2 INPP5E INPPL1 INTS1 INTU INVS IQCB1 ITGA3 ITGA8 JAG1 JAM3 KANK1 KANK2 KANSL1 KAT6B KCNJ1 KCNJ10 KCNJ16 KCNQ1OT1 KCTD1 KIAA0753 KIF14 KIF4A KIRREL1 KL KMT2A KMT2D KYNU LAGE3 LAMA5 LAMB2 LARS1 LCAT LDHA LGR4 LMNA LMOD1 LMX1B LPIN1 LRIG2 LRP4 LRRCC1 LYZ MAB21L1 MAFB MAGED2 MAGI2 MAPKBP1 MASP1 MAU2 MBTPS2 MCM5 MDM2 MED13L MEFV MFN1 MKKS MKS1 MMACHC MMUT MNX1 MOCOS MRPS34 MTHFD1 MTX2 MYH9 MYL9 MYLK MYMK MYO1E MYOCD NADSYN1 NBN NCAPG2 NEK1 NEK4 NEK8 NFIA NIPBL NLGN3 NLRP3 NOS1AP NOTCH2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPNT NR2F1 NRAS NRIP1 NSD1 NSUN2 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93 OCLN OCRL OFD1 OSGEP OXGR1 PACS1 PAN2 PAPPA2 PAX2 PBX1 PC PDE6D PDIA6 PDSS2 PEX1 PEX12 PEX16 PEX3 PEX5 PEX6 PEX7 PGAM2 PGK1 PGM3 PHEX PHGDH PHIP PHYH PIBF1 PIGN PIGQ PIGT PIGY PIK3C2A PIK3CA PIK3CG PIK3R2 PKD1 PKD2 PKHD1 PLAG1 PLCE1 PLD1 PLVAP PMM2 PPP1R12A PRDM1 PRDM10 PRDM15 PRKCD PROSER1 PRPS1 PRR12 PSMD12 PTPRO PUF60 PUS3 PYGM RAB23 RAD21 RCAN1 REN RERE RET RETREG1 RIN1 RNF139 RNF213 RNU12 ROBO2 ROR2 RPGRIP1L RRAGD RRM2B SALL1 SALL4 SARS2 SCARB2 SCNN1A SCNN1B SCNN1G SDCCAG8 SEC61A1 SET SETBP1 SETD5 SGPL1 SI SIX1 SIX2 SIX5 SLC12A1 SLC12A3 SLC16A12 SLC17A5 SLC1A2 SLC22A12 SLC26A1 SLC26A6 SLC2A2 SLC2A9 SLC30A7 SLC30A9 SLC34A1 SLC34A3 SLC35A2 SLC37A4 SLC3A1 SLC41A1 SLC45A1 SLC4A1 SLC4A4 SLC5A2 SLC7A9 SLIT3 SMARCAL1 SMC1A SMC3 SNRPB SOCS1 SOX17 SOX18 SPTBN5 STAT2 SUFU SUZ12 TAPT1 TBC1D8B TBL1XR1 TBX1 TBX18 TBX6 TBXT TCTN3 THBD TLN1 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM67 TOGARAM1 TP53RK TP63 TPRKB TRAF3IP1 TRIM8 TRMT5 TRPC6 TRRAP TSC1 TSC2 TSEN2 TSHZ3 TTC21B TTR TULP3 TXNDC15 TXNL4A UBA2 UMOD UPB1 VHL VIPAS39 VPS28 VPS33A VPS33B VPS35L WAS WBP11 WDR19 WDR31 WDR35 WDR4 WDR72 WDR73 WFS1 WLS WNK4 WNT4 WNT5A WNT7A WNT9B WT1 XDH XPNPEP3 XPO5 YRDC YWHAE ZMIZ1 ZMYM2 ZNF148 ZNF423 ZNF699 ZNFX1 ZPR1
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Tempo estimado de entrega do resultado:
45 dias
           

Velocardiofacial and DiGeorge Syndromes (22q11 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 22q11.2 and allows the diagnosis of patients with clinical suspicion of velocardiofacial and DiGeorge syndromes (... Ver mais22q11.2 - 22q11.2 DS deletion syndromes) The 22q11.2 deletion syndromes are particularly characterized by learning difficulty, characteristic facial signs, cardiac, palatal and immunological anomalies, among others.

Genes Analisados: TBX1
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Tempo estimado de entrega do resultado:
75 dias
           

Thrombophilias Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genetic... Ver mais susceptibility genes associated with thrombosis, including Leiden"s Factor V, Prothrombin deficiency, Anti-Thrombin III deficiency, Protein C deficiency, Protein S deficiency and Thrombotic Thrombocytopenic Purpura. Note: MTHFR gene is not included in the panel because it’s a recommendation of multiple medical societies that such gene is not investigated due to the weak evidence of its relationship with thrombophilias.

Genes Analisados: ADAMTS13 CBS F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9... Ver mais FGA FGB FGG GGCX LMAN1 MCFD2 MPL PROC PROS1 SERPINC1 SERPINE1 SERPINF2 THBD VKORC1 VWF
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Tempo estimado de entrega do resultado:
28 dias
           

Primary Immunodeficiencies Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 59 genes related... Ver mais to a number of primary immunodeficiencies, and other immune system diseases, including agamaglobulinemias (Antibody Deficiency), functional neutrophil deficiencies and neutropenias, chronic granulomatous diseases, hemophagocytic lymphohistiocytoses, atypical mycobacterioses, among others.

Genes Analisados: ADA AICDA BLNK BTK CD247 CD3D CD3E CD3G CD40 CD40LG CD79A CD79B... Ver mais CIITA CYBA CYBB CYBC1 DCLRE1C ELANE FOXN1 FOXP3 G6PC3 GATA2 GFI1 HAX1 IFNGR1 IFNGR2 IGLL1 IL12RB1 IL2RG IL7R JAK3 LRRC8A MAGT1 MPO MYD88 NCF2 NCF4 NHEJ1 ORAI1 PNP PRF1 PTPRC RAC2 RAG1 RAG2 RFX5 RFXANK RFXAP SH2D1A STAT1 STX11 STXBP2 TAP1 TAP2 TAPBP UNC13D UNG WAS WIPF1 XIAP
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Tempo estimado de entrega do resultado:
28 dias
           

Immunodeficiencies and Immunologic Diseases Panel (Complete)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais immunodeficiencies and other immune diseases of genetic etiology. The panel includes lymphoproliferative and Hyper-IgE syndrome.

Genes Analisados: A2ML1 ABCD4 ACD ACP5 ADA ADA2 ADAM17 ADAMTS3 ADNP AGA AICDA AIRE... Ver mais AK2 ALG1 ALG12 ALPI ALPK1 ANGPT1 AP1S3 AP3B1 AP3D1 ARHGEF1 ARPC1B ATM ATP6AP1 B2M BACH2 BCL10 BCL11B BLM BLNK BLOC1S3 BLOC1S6 BRCA1 BRCA2 BRIP1 BTK BUB1B C1QA C1QB C1QC C1R C1S C2 C3 C5 C6 C7 C8A C8B C9 CARD11 CARD14 CARD9 CARMIL2 CASP10 CASP8 CAVIN1 CCBE1 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD247 CD27 CD3D CD3E CD3G CD40 CD40LG CD55 CD59 CD70 CD79A CD79B CD81 CD8A CDC42 CDCA7 CDK9 CDSN CEBPE CFAP298 CFAP300 CFAP418 CFB CFD CFH CFI CFP CHAMP1 CHD1 CHD7 CIB1 CIITA CLCN7 CLEC7A CLPB COG6 COG7 COPA CORO1A CPN1 CR2 CREBBP CRIPT CSF3R CTC1 CTLA4 CTPS1 CXCR2 CXCR4 CYBA CYBB CYBC1 DBR1 DCLRE1B DCLRE1C DEAF1 DEF6 DHFR DIAPH1 DKC1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJC21 DNAL1 DNASE1L3 DNASE2 DNMT3B DOCK2 DOCK8 DRC1 DSG1 DTNBP1 EFL1 EGFR ELANE ELP1 EPG5 ERBIN ERCC2 ERCC4 ERCC6L2 ETV6 EXTL3 F12 FAAP24 FADD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBXL4 FCGR3A FCHO1 FCN3 FERMT3 FMO3 FNIP1 FOXI3 FOXN1 FOXP3 G6PC3 GALNS GAS2L2 GAS8 GATA1 GATA2 GFI1 GINS1 GSS GTF2H5 HAVCR2 HAX1 HCK HELLS HGSNAT HMOX1 HPS1 HPS3 HPS4 HPS5 HPS6 HTR1A HYDIN HYOU1 ICOS ICOSLG IFIH1 IFNAR1 IFNAR2 IFNGR1 IFNGR2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL10 IL10RA IL10RB IL12B IL12RB1 IL12RB2 IL17F IL17RA IL17RC IL18BP IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL6R IL6ST IL7R INO80 IRAK1 IRAK4 IRF2BP2 IRF3 IRF4 IRF7 IRF8 IRF9 ISG15 ITCH ITGB2 ITK IVD IVNS1ABP JAGN1 JAK1 JAK3 KMT2D KRAS LAMTOR2 LAT LCK LEP LIG1 LIG4 LPIN2 LRBA LRRC56 LRRC8A LYN LYST MAD2L2 MAGT1 MALT1 MAN2B1 MANBA MAP3K14 MC2R MCIDAS MCM4 MEFV MGP MMAA MMAB MMACHC MMUT MOGS MPL MPO MRTFA MS4A1 MSN MTHFD1 MVK MYD88 MYSM1 NBAS NBN NCF2 NCF4 NCKAP1L NFASC NFAT5 NFE2L2 NFKB1 NFKB2 NFKBIA NGF NHEJ1 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NME8 NOD2 NOP10 NRAS NSMCE3 OAS1 ODAD1 ODAD2 ODAD3 ODAD4 ORAI1 OSTM1 OTULIN OXCT1 PALB2 PARN PAX1 PCCA PCCB PEPD PGM3 PI4KA PIK3CD PIK3R1 PLCG2 PLG PLVAP PMM2 PMS2 PNP POLA1 POLD1 POLD2 POLE POLE2 POLR3A POLR3C POLR3F POMP PPP1R21 PRF1 PRKCD PRKDC PSMA3 PSMB4 PSMB8 PSMG2 PSTPIP1 PTPRC RAB27A RAC2 RAD50 RAD51 RAD51C RAG1 RAG2 RASGRP1 RBCK1 RBM8A REL RELA RELB RFWD3 RFX5 RFXANK RFXAP RHOG RHOH RIPK1 RMRP RNF113A RNF168 RNF31 RORC RPL11 RPL15 RPL18 RPL19 RPL26 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS24 RPS26 RPS28 RPS29 RPS7 RPSA RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SAMD9 SAMD9L SAMHD1 SBDS SCNN1B SCNN1G SDCCAG8 SEC61A1 SEMA3E SERAC1 SERPING1 SGPL1 SH2D1A SH3KBP1 SKIC2 SKIC3 SLC35A1 SLC35A2 SLC35C1 SLC37A4 SLC39A4 SLC39A7 SLC39A8 SLC46A1 SLK SLX4 SMARCAL1 SMARCD2 SNAI2 SNX10 SP110 SPAG1 SPINK5 SPPL2A SRP54 SRP72 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STING1 STK36 STK4 STN1 STX11 STXBP2 TAFAZZIN TALDO1 TAP1 TAP2 TAPBP TBCE TBK1 TBX1 TBXAS1 TCF3 TCIRG1 TCN2 TERC TERT TFRC TGFB1 TGFB3 TGFBR1 TICAM1 TINF2 TIRAP TLR3 TLR7 TMC6 TMC8 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFRSF9 TNFSF11 TNFSF12 TONSL TOP2B TPI1 TPP2 TRAC TRAF3 TRAF3IP2 TRNT1 TRPS1 TSR2 TTC12 TTC7A TYK2 UBE2T UMPS UNC119 UNC13D UNC93B1 UNG USB1 VIPAS39 VPS13B VPS33B VPS45 WAS WDR1 WIPF1 WRAP53 XIAP XRCC2 ZAP70 ZBTB24 ZCCHC8 ZMYND10 ZNF341
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Tempo estimado de entrega do resultado:
28 dias
           

Hereditary Anemias Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 4 genes related... Ver mais to genetic anemia conditions, including: Sickle-Cell Anemia, Beta Thalassemia, G6PD Deficiency, Shwachman-Bodian-Diamond Syndrome and Thiamine-Responsive Megaloblastic Anemia.

Genes Analisados: ABCB7 ABCD4 ABCG5 ABCG8 ACD ADA ADA2 ADH5 AK1 ALAS2 ALDOA AMMECR1... Ver mais AMN ANK1 APOB ATP11C ATRX BOLA2 BPGM BRCA1 BRCA2 BRIP1 CBLIF CD46 CD59 CDAN1 CDIN1 CFB CFH CFI COL4A1 COQ2 COX4I1 COX4I2 CPOX CTC1 CUBN CYB5R3 DHFR DKC1 DNAJC19 DNAJC21 EFL1 EPB41 EPB42 EPO ERCC4 ERCC6L2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FECH FTCD G6PD GATA1 GCLC GLRX5 GPI GSR GSS HBA1 HBA2 HBB HK1 HMOX1 HSPA9 IREB2 IVD KCNN4 KIF23 KLF1 LARS2 LCAT LMBRD1 LPIN2 MAD2L2 MDM4 MMAA MMAB MMACHC MMADHC MMUT MPIG6B MTHFD1 MTR MTRR MYSM1 NBN NHP2 NOP10 NT5C3A PALB2 PANK2 PARN PCCA PCCB PFKM PGK1 PIEZO1 PKLR PNPO PRF1 PUS1 RACGAP1 RAD51 RAD51C RFWD3 RGL2 RHAG RPL10 RPL10A RPL11 RPL15 RPL18 RPL19 RPL26 RPL27 RPL3 RPL31 RPL34 RPL35 RPL35A RPL5 RPLP0 RPS10 RPS11 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 SBDS SC5D SEC23B SLC11A2 SLC19A1 SLC19A2 SLC25A38 SLC2A1 SLC46A1 SLC4A1 SLX4 SPTA1 SPTB SRC SRP54 SRP72 STEAP3 TALDO1 TCN2 TERT TF TFRC TGFB1 THBD TINF2 TKFC TMPRSS6 TP53 TPI1 TRNT1 TSR2 UBE2T UMPS UROD UROS VPS13A VPS4A WRAP53 XK XRCC2 YARS2 ZCCHC8
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Tempo estimado de entrega do resultado:
28 dias
           

Hemophilia A and B Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of F8 and F9 genes... Ver mais, which respectively cause, Hemophilia A and Hemophilia B. Note: The severe Hemophilia A has as its main cause two variants (Inv22 and Inv1 in F8 gene) which are not analyzed in this test. Contact us for further information.

Genes Analisados: F8 F9
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Tempo estimado de entrega do resultado:
28 dias
           

Hemophilia A (Inv22 and Inv1)

The test allows the identification of the most frequent genetic change in individuals with severe Hemophilia A, the inversions in intron 1 and 22 of F8 gene. Hemophilia A is a genetic... Ver mais condition, where the blood does not properly clot. Excessive bleeding and hematomas, sometimes spontaneous, are symptoms of the disease. People with Hemophilia type A lack factor VIII, a protein produced by F8 gene. The inversions in intron 1 and 22 of F8 gene, identified in this test, cause approximately 48% of the severe Hemophilia A cases.

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Tempo estimado de entrega do resultado:
75 dias
           

Fanconi Anemia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais Fanconi Anemia.

Genes Analisados: BRCA1 BRCA2 BRIP1 COX4I1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG... Ver mais FANCI FANCL FANCM MAD2L2 PALB2 RAD51 RAD51C RFWD3 SLX4 UBE2T XRCC2
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Tempo estimado de entrega do resultado:
45 dias
           

Coagulation Disorders Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Ver maisssociated withcoagulation disorders, including hemophilias A and B, platelet disorders, deficiency of factors V, VII, X, XI, XII, XIII and XIIIb, among others. Attention: this test does not detect the two main mutations of Factor VIII associated withsevere hemophilia type A (Inv22 and Inv1) - the test for such mutations can be requested separately.

Genes Analisados: ACTN1 ANO6 AP3B1 ARPC1B BLOC1S3 COL4A1 COL4A2 DTNBP1 F10 F11 F12 F13A1... Ver mais F13B F2 F5 F7 F8 F9 FGA FGB FGG FLI1 GFI1B GGCX GP1BA GP1BB GP6 GP9 HPS1 HPS3 HPS4 HPS5 HPS6 ITGA2 ITGA2B ITGB3 LMAN1 MCFD2 NBEAL2 P2RY12 PLA2G4A PLAT PLAU PRKACG RASGRP2 SERPIND1 SLFN14 TBXA2R TBXAS1 VKORC1 VWF
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Tempo estimado de entrega do resultado:
28 dias
           

Autoinflammatory Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 54 genes related... Ver mais to autoinflammatory diseases.

Genes Analisados: ACP5 ADA ADA2 ADAM17 AICDA AIRE AP3B1 ARPC1B BACH2 BLOC1S6 BTK CARD11... Ver mais CARD14 CASP10 CASP8 CCBE1 CD27 CD3G CD55 DCLRE1C DNASE2 EGFR FOXP3 IL10RA IL10RB IL1RN IL21 IL21R IL36RN ITCH LPIN2 LYST MEFV MVK NLRC4 NLRP12 NLRP3 NOD2 PLCG2 PNP POLA1 POMP PRKCD PSTPIP1 RAB27A RAG1 SH2D1A STAT1 STAT5B STXBP2 TNFAIP3 TNFRSF1A TRNT1 TTC7A
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Tempo estimado de entrega do resultado:
28 dias
           

Primary Ciliary Dyskinesia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais primary ciliary dyskinesia.

Genes Analisados: ACVR2B ADAMTS9 AHI1 AK7 ALG8 ALMS1 ANKS6 ARL13B ARL3 ARL6 ARMC9 B9D1... Ver mais B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 C2CD3 CC2D2A CCDC103 CCDC39 CCDC40 CCDC65 CCNO CCNQ CELSR2 CENPF CEP104 CEP120 CEP164 CEP19 CEP290 CEP41 CEP55 CEP83 CFAP298 CFAP300 CFAP410 CFAP418 CFAP53 CFAP57 CFTR CPLANE1 CRB2 CSPP1 CTU2 DCDC2 DDX59 DHCR7 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH6 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAL1 DRC1 DYNC2H1 DYNC2LI1 DZIP1L EVC EVC2 EXOC3L2 EXOC8 FAM149B1 FBN3 FGFR1 FGFR2 FGFR3 FOXH1 FOXJ1 GANAB GAS2L2 GAS8 GDF1 GLIS2 HNF1B HYDIN HYLS1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 INPP5E INTU INVS IQCB1 KATNIP KIAA0586 KIAA0753 KIF14 KIF7 LEFTY2 LRP5 LRRC56 LRRCC1 LZTFL1 MAPKBP1 MCIDAS MKKS MKS1 MMP21 MRE11 NEK1 NEK8 NKX2-5 NME8 NODAL NOTCH2 NPHP1 NPHP3 NPHP4 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PDE6D PIBF1 PKD1L1 PKD2 PKHD1 PMM2 PRKCSH RPGR RPGRIP1L RSPH1 RSPH3 RSPH4A RSPH9 SCLT1 SDCCAG8 SEC63 SLC30A7 SMAD2 SPAG1 SPEF2 STK36 SUFU TBC1D32 TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRAF3IP1 TRAPPC3 TRIM32 TTC12 TTC21B TTC8 TXNDC15 USP9X WDPCP WDR19 WDR35 XPNPEP3 ZIC3 ZMYND10 ZNF423
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Tempo estimado de entrega do resultado:
28 dias
           

Dyslipidemias Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais dyslipidemias. The dyslipidemias cause elevation of the cholesterol level (hypercholesterolemia) and triglycerides (hipertriglyceridemia), and may lead to acute myocardial infarction.

Genes Analisados: ABCA1 ABCG5 ABCG8 APOB EPHX2 LDLR LDLRAP1 LIPA PCSK9 RAB35
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Tempo estimado de entrega do resultado:
28 dias
           

Marfan Syndrome and Associated Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 61 genes associa... Ver maisted with Marfan syndrome and its differential diagnoses, including the Loeys-Dietz syndrome, hemocystinuria, genes of susceptibility to the development of ortic aneurysm, Stickler syndrome, Ehlers-Danlos syndrome, among others.

Genes Analisados: ACTA2 ADAMTS10 ADAMTS2 ADAMTSL4 AEBP1 ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3... Ver mais B4GALT7 BGN CBS CHST14 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL9A1 COL9A2 EFEMP2 ELN FBLN5 FBN1 FBN2 FKBP14 FLNA FOXE3 GORAB GZF1 HRAS IPO8 KIF22 LOX LTBP2 LTBP3 LTBP4 MED12 MFAP5 MYH11 MYLK NKAP NOTCH1 PIK3R1 PLOD1 PPP1CB PRKG1 PYCR1 RIN2 ROBO4 SKI SLC2A10 SLC39A13 SMAD2 SMAD3 SMAD4 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB
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Tempo estimado de entrega do resultado:
28 dias
           

Cardiomyopathy Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the genes more f... Ver maisrequently associated with different forms of hereditary myocardiopathy, including dilated myocardiopathies, hypertrophic myocardiopathies, ventricular non-compaction, among others.

Genes Analisados: AARS2 ABCC6 ABCC9 ACAD8 ACAD9 ACADVL ACTA1 ACTC1 ACTN2 ADCY5 AGK AGL... Ver mais AHCY ALG1 ALG12 ALMS1 ALPK3 ANK2 ANKS6 ARSB ATAD3A ATP5F1E ATPAF2 BAG3 BCS1L BMP2 BOLA3 BRAF BSCL2 C1QBP C1QTNF5 CACNA1C CACNB2 CALM1 CALM2 CALM3 CALR3 CAP2 CASQ2 CAV3 CAVIN1 CBL CENPE CEP19 CHKB CLIC2 CLN3 COA5 COA6 COA8 COQ2 COQ4 COX10 COX14 COX15 COX20 COX6B1 COX7B CPT1A CPT2 CRYAB CSRP3 CTNNA3 D2HGDH DCAF8 DES DLD DMD DNAJC19 DOLK DPM3 DPP6 DSC2 DSG2 DSP DTNA ECHS1 ELAC2 EMD EPG5 ERBB3 EYA4 FAH FASTKD2 FBXL4 FHL1 FHOD3 FIG4 FKRP FKTN FLAD1 FLNC FNIP1 FOXRED1 FTO FUCA1 FXN GAA GATAD1 GBE1 GJA5 GLA GLB1 GMPPB GNAI2 GNB5 GNPTAB GNS GPC3 GPD1L GSN GTPBP3 GYS1 HADH HADHA HADHB HCCS HCN4 HGSNAT HPS1 HRAS HSD17B10 IDH2 IDUA ITPA JPH2 JUP KCNA5 KCND3 KCNE2 KCNE3 KCNH1 KCNH2 KCNJ2 KCNJ5 KCNQ1 KIF20A KRAS LAMA4 LAMP2 LDB3 LIAS LMNA LZTR1 MAP2K1 MAP2K2 MCCC2 MCM10 MGME1 MIB1 MLYCD MMUT MRAS MRPL3 MRPL44 MRPS22 MRPS7 MT-TI MTFMT MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYL4 MYLK2 MYLK3 MYO6 MYOT MYOZ2 MYPN NAGLU NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NEXN NF1 NKX2-5 NONO NPPA NRAP NRAS NUBPL NUP155 PAM16 PCCA PCCB PET100 PGM1 PHYH PIGT PKP2 PLEKHM2 PLN PMM2 PNPLA2 POLG POMT1 PPCS PPP1CB PPP1R13L PRDM16 PRG4 PRKAG2 PRKAR1A PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 PTPN11 RAB3GAP2 RAF1 RASA1 RBCK1 RBM20 RIT1 RMND1 RPL3L RRAGD RYR2 SCN1B SCN2B SCN3B SCN5A SCO1 SCO2 SDHA SDHAF1 SDHD SELENON SGCA SGCB SGCD SGCG SGSH SHMT2 SHOC2 SLC19A2 SLC22A5 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC30A5 SLC6A6 SOD2 SOS1 SOS2 SPEG SPRED1 SURF1 SYNE1 SYNE2 TACO1 TAF1A TAFAZZIN TANGO2 TAPT1 TBX1 TBX20 TBX3 TBX5 TCAP TECRL TF TGFB3 TIMMDC1 TMEM126A TMEM126B TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TOP3A TOR1AIP1 TPM1 TPM3 TRDN TRIT1 TRMT5 TRNT1 TRPM7 TSC1 TSFM TTN TTR TWNK UBR1 UQCRFS1 VCL VPS33A WFS1 XK XPNPEP3 YARS2
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Tempo estimado de entrega do resultado:
28 dias
           

Arrhythmia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes which caus... Ver maise several forms of hereditary arrhythmias, including Brugada Syndrome, Long QT Syndrome, Short QT Syndrome, among others.

Genes Analisados: AARS2 ABCC6 ABCC9 ACAD8 ACAD9 ACADVL ACTA1 ACTC1 ACTN2 ADCY5 AGK AGL... Ver mais AHCY ALG1 ALG12 ALMS1 ALPK3 ANK2 ANKS6 ARSB ATAD3A ATP5F1E ATPAF2 BAG3 BCS1L BMP2 BOLA3 BRAF BSCL2 C1QBP C1QTNF5 CACNA1C CACNA1D CACNB2 CALM1 CALM2 CALM3 CALR3 CAP2 CASQ2 CAV3 CAVIN1 CDH2 CENPE CEP19 CHKB CLIC2 CLN3 COA5 COA6 COA8 COQ2 COQ4 COX10 COX14 COX15 COX20 COX6B1 COX7B CPT1A CPT2 CRYAB CSRP3 CTNNA3 D2HGDH DCAF8 DES DLD DMD DNAJC19 DOLK DPM3 DPP6 DSC2 DSG2 DSP DTNA ECHS1 ELAC2 EMD EPG5 ERBB3 EYA4 FAH FASTKD2 FBXL4 FHL1 FHOD3 FIG4 FKRP FKTN FLAD1 FLNC FNIP1 FOXRED1 FTO FUCA1 FXN GAA GATA4 GATA5 GATAD1 GBE1 GJA5 GLA GLB1 GMPPB GNAI2 GNB5 GNPTAB GNS GPC3 GPD1L GSN GTPBP3 GYS1 HADH HADHA HADHB HCCS HCN4 HGSNAT HPS1 HRAS HSD17B10 IDH2 IDUA ITPA JPH2 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNH1 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KIF20A LAMA4 LAMP2 LDB3 LIAS LMNA MAP2K1 MAP2K2 MCCC2 MCM10 MGME1 MIB1 MLYCD MMUT MRPL3 MRPL44 MRPS22 MRPS7 MT-TI MTFMT MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYL4 MYLK2 MYO6 MYOT MYOZ2 MYPN NAGLU NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NEXN NKX2-5 NONO NPPA NRAP NUBPL NUP155 PAM16 PCCA PCCB PET100 PGM1 PHYH PIGT PKP2 PLEKHM2 PLN PMM2 PNPLA2 POLG POMT1 PPA2 PPCS PPP1R13L PRDM16 PRG4 PRKAG2 PRKAR1A PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 RAB3GAP2 RAF1 RBCK1 RBM20 RIT1 RMND1 RPL3L RRAGD RYR2 SCN1B SCN2B SCN3B SCN4B SCN5A SCO1 SCO2 SDHA SDHAF1 SDHD SELENON SGCA SGCB SGCD SGCG SGSH SHMT2 SHOC2 SLC19A2 SLC22A5 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC30A5 SLC4A3 SLC6A6 SOD2 SOS1 SPEG SURF1 SYNE1 SYNE2 TACO1 TAF1A TAFAZZIN TANGO2 TAPT1 TBX1 TBX3 TBX5 TCAP TECRL TF TGFB3 TIMMDC1 TMEM126A TMEM126B TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TOP3A TOR1AIP1 TPM1 TPM3 TRDN TRIT1 TRMT5 TRNT1 TRPM4 TRPM7 TSC1 TSFM TTN TTR TWNK UBR1 UQCRFS1 VCL VPS33A WFS1 XK XPNPEP3 YARS2
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Tempo estimado de entrega do resultado:
28 dias
           

Aortic Aneurysm Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 23 genes associa... Ver maisted to an increased risk for the development of primary aortic aneurysm, including the genes which cause Cutis Laxa, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, Marfan Syndrome, Meester-Loeys Syndrome, Shprintzen-Goldberg Syndrome, among others.

Genes Analisados: ACTA2 BGN COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 EFEMP2 FBLN5 FBN1 LOX MFAP5... Ver mais MYH11 MYLK PRKG1 SKI SLC2A10 SMAD3 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2
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Tempo estimado de entrega do resultado:
28 dias
           

Retinoblastoma

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of RB1 gene. The te... Ver maisst allows the diagnosis of patients with suspected retinoblastoma. RB1 gene is a tumor suppressor gene which regulates cell growth. Retinoblastoma is a malignant tumor which develops in the retina, generally before five years old. Variants detected only in RB1 gene sequencing test (point mutations) are identified in more than 80% of the affected individuals. Microdeletions or microduplications (CNV) in the gene are responsible for up to 20% of the cases.

Genes Analisados: RB1
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Tempo estimado de entrega do resultado:
20 dias
           

Hereditary Retinopathy Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais genetic etiology retinopathies, including different forms of pigmentary retinosis, Bardet Biedl syndrome, Stargardt disease, cones and rods dystrophy, neuronal ceroid lypofuscinosis, Usher syndrome, Leber Congenital Amaurosis and others.

Genes Analisados: ABCA4 ABCB5 ABCC6 ABHD12 ACBD5 ACO2 ADAM9 ADAMTS18 ADAMTS9 ADAMTSL4 ADGRV1 AFG3L2... Ver mais AGBL5 AHI1 AHR AIPL1 ALMS1 ALPK1 AMACR ARFGAP2 ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSG ASRGL1 ATF6 ATOH7 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 C1QTNF5 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CASK CC2D2A CDH23 CDH3 CDHR1 CEP120 CEP162 CEP164 CEP250 CEP290 CEP41 CEP78 CERKL CFAP20 CFAP410 CFAP418 CFH CHM CISD2 CLCC1 CLEC3B CLN3 CLN5 CLN6 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL11A1 COL11A2 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 CPLANE1 CRB1 CRPPA CRX CSPP1 CTNNA1 CTNNB1 CTSD CTSF CWC27 CYP4V2 DHDDS DHX38 DNAJC17 DNAJC5 DNM1L DRAM2 DYNC2H1 EFEMP1 ELOVL4 EMC1 ERCC6 ESPN EXOSC2 EYS FAM161A FBLN5 FDXR FLVCR1 FRMD7 FZD4 GDF6 GJB2 GNAT1 GNAT2 GNB3 GNPTG GPR143 GPR179 GRK1 GRM6 GRN GUCA1A GUCY2D HGSNAT HK1 HKDC1 HMCN1 HMX1 IDH3A IDH3B IFT140 IFT172 IFT27 IFT43 IFT74 IFT88 IGFBP7 IMPDH1 IMPG1 IMPG2 INPP5E IQCB1 IRX5 ITM2B JAG1 KCNJ13 KCNV2 KCTD7 KIAA0586 KIAA0753 KIAA1549 KIF11 KIF3B KIF7 KIZ KLHL7 LAMA1 LARGE1 LCA5 LRAT LRIT3 LRMDA LRP2 LRP5 LYST LZTFL1 MAK MAPKAPK3 MERTK MFN2 MFRP MFSD8 MIR204 MKKS MKS1 MMACHC MTPAP MTRFR MTTP MVK MYO7A NBAS NDP NEK2 NEUROD1 NMNAT1 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NRL NUMB NYX OAT OCA2 OFD1 OPA1 OPA3 OPN1LW OPN1SW OTX2 P3H2 PAK2 PANK2 PAX2 PAX6 PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGK1 PHYH PIBF1 PISD PITPNM3 PLK4 PNPLA6 POC1B POC5 POMGNT1 PPP2R3C PPP2R5E PPT1 PRCD PRDM13 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PYGM RAB28 RAX2 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RS1 RTN4IP1 SAG SCAPER SCLT1 SDCCAG8 SEMA4A SIX6 SLC24A1 SLC24A5 SLC25A46 SLC30A7 SLC39A12 SLC45A2 SLC66A1 SLC6A6 SLC7A14 SNRNP200 SPATA7 SSBP1 STX3 SUFU TCTN1 TCTN2 TCTN3 TEAD1 TIMM8A TIMP3 TLCD3B TMEM107 TMEM126A TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TPP1 TRAF3IP1 TRAPPC3 TRIM32 TRNT1 TRPM1 TSPAN12 TTC21B TTC8 TTLL5 TUB TUBB4B TUBGCP4 TUBGCP6 TULP1 TXNDC15 TYR TYRP1 UNC119 USH1C USH1G USH2A USO1 USP45 VCAN VPS13B VSX2 WDPCP WDR19 WFS1 WHRN YME1L1 ZNF408 ZNF423 ZNF513
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Tempo estimado de entrega do resultado:
28 dias
           

Corneal Diseases Panel

Corneal Diseases Panel

Genes Analisados: ADAMTS18 AGBL1 ARL2 CFD CHRDL1 CHST6 COL8A2 CRIM1 DCN GRHL2 KERA KRT12... Ver mais KRT3 LTBP2 NLRP1 OVOL2 PIKFYVE PITX2 PLCB3 PRDM5 PXDN SLC16A12 SLC4A11 TACSTD2 TGFBI UBIAD1 ZEB1 ZNF469
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Tempo estimado de entrega do resultado:
28 dias
           

Deafness Panel (GJB2 & GJB6)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of GJB2 (Connexin 2... Ver mais6 or Cx26) and GJB6 (Connexin 30) genes, more frequently associated to hereditary deafness.

Genes Analisados: GJB2 GJB6
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Tempo estimado de entrega do resultado:
28 dias
           

Hereditary Deafness Panel (Expanded)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais different forms of syndromic and non-syndromic deafness of genetic etiology.

Genes Analisados: A2ML1 ABHD12 ABHD5 ACOX1 ACTB ACTG1 ADCY1 ADGRV1 AIFM1 ALMS1 AP1B1 ARSB... Ver mais ARSG ATOH1 ATP11A ATP1A3 ATP2B2 ATP6V0A4 ATP6V1B1 BCAP31 BCS1L BDP1 BSND BTD CABP2 CACNA1D CATSPER2 CCDC50 CD151 CDC14A CDH23 CEACAM16 CEP250 CHD7 CIB2 CISD2 CLDN14 CLDN9 CLIC5 CLPP CLRN1 CLRN2 COCH COL11A1 COL11A2 COL2A1 COL4A3 COL4A4 COL4A5 COL4A6 COL9A1 COL9A2 COL9A3 CRYM DCAF17 DCDC2 DIABLO DIAPH1 DIAPH3 DMXL2 DNAJC3 DNMT1 DSPP ECE1 EDN1 EDN3 EDNRA EDNRB EFTUD2 ELMOD3 EPS8 EPS8L2 ERAL1 ERCC2 ERCC3 ESPN ESRRB EYA1 EYA4 FAS FDXR FGF3 FGFR3 FITM2 FOXC1 FOXI1 GALNS GATA3 GDF6 GIPC3 GJA1 GJB1 GJB2 GJB3 GJB4 GJB6 GLB1 GNAI3 GPR156 GPRASP2 GPSM2 GRAP GREB1L GRHL2 GRXCR1 GRXCR2 GSDME GUSB HARS2 HGF HGSNAT HOMER2 HOXA2 HSD17B4 IDS IDUA IFNLR1 ILDR1 JAG1 KARS1 KCNJ10 KCNQ1 KCNQ4 KITLG LARS2 LHFPL5 LHX3 LMX1A LOXHD1 LOXL3 LRP2 MAN2B1 MAP1B MARVELD2 MEOX1 MINAR2 MIR96 MITF MPZL2 MRPS2 MSRB3 MTAP MYH14 MYH9 MYO15A MYO3A MYO6 MYO7A MYOC NAGLU NARS2 NDP NDRG1 NF2 NLRP3 NOG NR2F1 OPA1 OSBPL2 OTOA OTOF OTOG OTOGL P2RX2 PAX3 PCDH15 PDE1C PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PI4KB PJVK PKHD1L1 PLCB4 PLS1 PMP22 PNPT1 POLR1C POLR1D POU3F4 POU4F3 PRPS1 PTPRQ RAI1 RDX REST RIPOR2 RMND1 ROR1 RPS6KA3 S1PR2 SEMA3E SERAC1 SERPINB6 SGSH SH3TC2 SIX1 SIX5 SLC12A2 SLC17A8 SLC22A4 SLC26A4 SLC26A5 SLC29A3 SLC44A4 SLC4A11 SLC52A2 SLC52A3 SLC9A1 SLITRK6 SMARCA4 SMPX SNAI2 SOX10 SOX2 SPINK5 SPNS2 STRC SYNE4 TBC1D24 TBL1X TBX1 TCOF1 TECTA TFAP2A TIMM8A TJP2 TMC1 TMEM126A TMEM132E TMEM43 TMIE TMPRSS3 TNC TPRN TRIOBP TRMT10C TRRAP TSHZ1 TSPEAR TUBB4B TWNK UBR1 USH1C USH1G USH2A USP48 WBP2 WFS1 WHRN XYLT2 ZNF469
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Tempo estimado de entrega do resultado:
28 dias
           

Short Stature Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 67 genes which m... Ver maisay result in different forms of short stature.

Genes Analisados: ABCA2 ACAN ADAMTS10 ANKRD11 ATP2B1 ATR BRAF CAMK2B CBL CCDC8 CDC6 CDKN1C... Ver mais CDT1 CENPJ CEP152 CEP63 CHD7 CLEC16A COL10A1 COL2A1 COL9A1 COL9A2 COMP CREBBP CUL7 DBR1 FBN1 FGF8 FGFR1 FGFR3 FTO GH1 GHR GHRHR GHSR GLI2 GLI3 GNAS GPKOW GPR101 HESX1 HRAS IARS1 IARS2 IGF1 IGF1R IGF2 IGFALS IHH INTS1 KRAS LHX3 LHX4 LIG4 MAP2K1 MORC2 NHEJ1 NPPC NPR2 NPR3 NRAS NUF2 OBSL1 ORC1 ORC4 ORC6 OTX2 PAPSS2 PCNT PITX2 POU1F1 PRKAR1A PRKDC PROP1 PTH1R PTPN11 QRFPR RAF1 RBBP8 RNPC3 SHOC2 SHOX SLC30A7 SMARCC2 SMG8 SOS1 SOX3 SOX9 SRCAP STAT5B TAF8 TCF4 TET3 VPS4A XRCC4 ZNF668 ZPR1
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Tempo estimado de entrega do resultado:
28 dias
           

Pheochromocytoma and Paraganglioma Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 10 genes related... Ver mais to hereditary susceptibility for pheochromocytoma and paraganglioma.

Genes Analisados: MAX NF1 RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127 VHL
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Tempo estimado de entrega do resultado:
45 dias
           

Neonatal Endocrinopathies Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 24 genes related... Ver mais to Neonatal Diabetes, Hyperinsulinemic Hypoglycemia, Congenital Hypothyroidism, Congenital Pituitary Deficiency, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia. All the panel diseases are potentially treatable if diagnosed early. NOTE – Gene CYP21A2 is not included in the panel.

Genes Analisados: ABCC8 CYP11B1 CYP17A1 DUOXA2 GCK GLIS3 GLUD1 HADH INSR IYD KCNJ11 LHX4... Ver mais NR0B1 PAX8 POU1F1 PROP1 SLC16A1 SLC2A2 SLC5A5 TG THRA THRB TPO TSHB
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Tempo estimado de entrega do resultado:
28 dias
           

Monogenic Diabetes Panel (MODY)

This NGS panel of Monogenic Diabetes (Maturity-Onset Diabetes of the Young - MODY) performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of... Ver mais copies (CNV) through next generation sequencing (NGS) of genes related to this condition. The Panel includes 11 types of MODY that have already been strongly associated with specific genes. Types 8, 9 and 11 are not covered at the moment.

Genes Analisados: ABCC8 AIRE AKT2 ALMS1 APPL1 CISD2 CNOT1 CP DCAF17 DNAJC3 DYRK1B EIF2AK3... Ver mais EIF2B1 EIF2S3 FOXP3 GATA4 GATA6 GCK GLIS3 HNF1A HNF1B HNF4A IER3IP1 IL2RA INS INSR ITCH KCNJ11 KLF11 MAFA MNX1 NEUROD1 NEUROG3 PAX4 PCBD1 PDX1 PIK3R1 PLAGL1 POLD1 PPARG PPP1R15B PTF1A RFX6 SH2B1 SLC19A2 SLC29A3 SLC2A2 STAT1 STAT3 TRMT10A WFS1 ZBTB20 ZFP57 ZMPSTE24
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Tempo estimado de entrega do resultado:
28 dias
           

Male Infertility Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Ver maisssociated to male infertility. The analysis includes CFTR gene, which is associated to deferent duct agenesis. Note: Deletions in the AZF region of chromosome Y and chromosomal changes which may be associated to male infertility are not evaluated in this panel.

Genes Analisados: ACTL9 ADGRG2 AK7 AKAP4 AKAP9 ARMC2 ASZ1 AURKC C14orf39 C2CD6 CATIP CATSPER1... Ver mais CATSPER2 CCDC146 CCDC34 CCDC62 CDC14A CEP112 CEP131 CEP19 CFAP251 CFAP43 CFAP44 CFAP45 CFAP47 CFAP58 CFAP65 CFAP69 CFAP70 CFAP91 DAZL DDX25 DMC1 DMRT1 DNAH1 DNAH10 DNAH17 DNAH2 DNAH6 DNAH8 DNHD1 DPY19L2 DRC1 DZIP1 ELMO1 ESR2 FAM47C FANCM FBXO43 FKBP4 FKBP6 FSIP2 GALNTL5 GCNA GGN HENMT1 HIPK4 HORMAD1 HSF2 IFT74 KASH5 KLHL10 M1AP MAGEE2 MCIDAS MCM8 MCMDC2 MEI1 MEIOB MMRN1 MNS1 MOV10L1 MSH4 MSH5 NR5A1 ODF4 PDHA2 PGK2 PIWIL2 PLCZ1 PMFBP1 PNLDC1 PPP2R3C PRM1 PRM2 QRICH2 RABL2A RBBP7 REC8 RNF212 ROS1 RPL10L SCAPER SEPTIN12 SEPTIN4 SHOC1 SLC26A8 SOHLH1 SOX8 SPAG17 SPATA16 SPATA3 SPEF2 SPINK2 STAG3 STK33 STRA8 SUN1 SUN5 SYCP2 SYCP3 TAF4B TAF7L TBCCD1 TDRD6 TDRD9 TDRKH TEKT4 TERB1 TERB2 TEX11 TEX13B TEX14 TEX15 TNP1 TSGA10 TTC21A TTC29 TTLL9 USP26 USP9Y WDR19 XRCC2 ZMYND15 ZPBP ZSWIM7
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Tempo estimado de entrega do resultado:
28 dias
           

Endocrine Neoplasia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with the hereditary predisposition to thyroid cancer and other endocrine neoplasias, including MEN1 and RET genes (MEN2A), the most frequently related to endocrine neoplasias.

Genes Analisados: APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A... Ver mais CHEK2 DICER1 EGFR EPCAM FANCC FANCM FH FLCN IPMK MEN1 MET MLH1 MSH2 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD51C RAD51D RECQL RET STK11 TP53 VHL
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Tempo estimado de entrega do resultado:
20 dias
           

Endocrine Neoplasia Expanded Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with the predisposition to thyroid cancer and other endocrine neoplasias, including MEN1 and RET genes (MEN2A).

Genes Analisados: AIP AKT1 APC ARMC5 ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1... Ver mais CDH1 CDH23 CDK4 CDKN1B CDKN2A CHEK2 DICER1 EGFR EPCAM FANCC FANCM FH FLCN GPR101 IPMK KIF1B MAX MEN1 MET MLH1 MSH2 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PRKAR1A PTEN RAD51C RAD51D RECQL RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SMARCA4 STK11 TMEM127 TP53 VHL
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Tempo estimado de entrega do resultado:
20 dias
           

Congenital Adrenal Hyperplasia, CYP21A2 Deficiency (Seq. + MLPA)

This exam sequences the CPY21A2 gene by Sanger Sequencing, in addition to the identification of microdeletions or microduplications by MLPA, enabling the diagnosis of individuals with s... Ver maisuspected Congenital Adrenal Hyperplasia. This syndrome is caused by a deficiency of steroidogenic enzymes such as 21-hydroxylase. Between 90-95% of the cases are caused by alterations in the CPY21A2 gene (6p21.3).

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Tempo estimado de entrega do resultado:
60 dias
           

Tuberous Sclerosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of TSC1 (Tuberous S... Ver maisclerosis type 1) and TSC2 (Tuberous Sclerosis type 2) genes.

Genes Analisados: TSC1 TSC2
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Tempo estimado de entrega do resultado:
28 dias
           

Spinocerebellar Ataxias Expansions (SCA1, SCA2, SCA3, SCA6)

This test investigates the presence of nucleotide expansions in SCA1, SCA2, SCA3 and SCA6 genes for the diagnosis of individuals with clinical specific suspicion of spinocerebellar atax... Ver maisias types 1, 2, 3 and 6. The spinocerebellar ataxias (SCA) are part of a clinical and genetically heterogeneous group of more than 30 autosomal dominant cerebellar ataxias. Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. Other genes associated withother spinocerebellar ataxias, such as SCA7, SCA10, SCA12, SCA17, ATN1, among others, are not included in this test.

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Tempo estimado de entrega do resultado:
75 dias
           

Spinocerebellar Ataxia Type 7 (ATXN7/SCA7 expansion)

This ATXN7 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 7 (SCA7). The SCA7 is part of a clinical and genetically heter... Ver maisogeneous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. SCA7 is caused by the expansion (abnormal increase) of trinucleotide ‘CAG’ in ATXN7 gene. This segment normally presents less than 19 repetitions. In people with spinocerebellar ataxia type 6, the ‘CAG’ segment presents between 37 and 460 repetitions.

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Tempo estimado de entrega do resultado:
75 dias
           

Spinocerebellar Ataxia Type 6 (CACNA1A/SCA6 expansion)

This CACNA1A gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 6 (SCA6). The SCA6 is part of a clinical and genetically het... Ver maiserogeneous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. SCA6 is caused by the abnormal expansion of trinucleotide ‘CAG’ in CACNA1A gene. This segment normally presents less than 19 repetitions. In people with spinocerebellar ataxia type 6, the segment presents between 20 and 33 ‘CAG’ repetitions.

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Tempo estimado de entrega do resultado:
75 dias
           

Spinocerebellar Ataxia Type 3 – Machado-Joseph (ATXN3/SCA3 expansion)

This ATXN3 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 3 (SCA3), also know as Machado-Joseph disease. The SCA3 is par... Ver maist of a clinical and genetically heterogenous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. SCA3 is caused by the abnormal increase (expansion) of ‘CAG’ trinucleotide in ATXN3 gene. This segment normally presents between 12 and 44 ‘CAG’ repetitions. In people with SCA3, the ‘CAG’ segment presents between 60 and 87 repetitions.

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Tempo estimado de entrega do resultado:
75 dias
           

Spinocerebellar Ataxia Type 10 (ATXN10/SCA10 expansion)

This ATXN10 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 10 (SCA10). The SCA10 is part of a clinical and genetically h... Ver maiseterogenous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. SCA10 is associated with the abnormal increase (expansion) of ‘ATTCT’ pentanucleotide in the intronic region of ATXN10 gene. This segment normally contains between 9 and 32 ‘ATTCT’ repetitions. In people with SCA10, the ‘ATTCT’ segment presents from 800 to more than 4,000 repetitions.

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Tempo estimado de entrega do resultado:
75 dias
           

Spinal Muscular Atrophy (post-MLPA SMN1 NGS sequencing)

This test conducts the sequencing of SMN1 gene. The test allows the diagnosis of patients with suspected Progressive Spinal Atrophy (PSA), also known as Spinal Muscular Atrophy (SMA).... Ver mais This test is recommended for patients who have already previously conducted the MLPA test. PSA is a neurodegenerative disease characterized by the loss of motor neurons leading to weakness and muscular atrophy. Variants in SMN1 gene cause the disease. Around 95% of the patients with PSA are carriers of deletion which comprises the two copies of exon 7 of SMN1 gene (maternal and paternal copies). Around 5% of the people with the disease, are carriers of microdeletion of exon 7 in one of the copies of the gene and in the other copy are carriers of changes detected only in sequencing tests (indels and substitutions) of SMN1 gene.

Genes Analisados: SMN1
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Tempo estimado de entrega do resultado:
28 dias
           

Spastic Paraplegia and Amyotrophic Lateral Sclerosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with the superior motor neuron diseases such as amyotrophic lateral sclerosis and hereditary spastic paraplegias. This test does not include the C9orf72 gene expansion investigation.

Genes Analisados: ABCD1 ACO2 ADAR AFG3L2 ALDH18A1 ALS2 AMPD2 ANG ANXA11 AP4B1 AP4E1 AP4M1... Ver mais AP4S1 AP5Z1 ARG1 ARL6IP1 ATL1 ATL3 ATP13A2 ATRX B4GALNT1 BICD2 BSCL2 C19orf12 CAPN1 CCT5 CFAP410 CHCHD10 CHMP2B CPT1C CYP27A1 CYP2U1 CYP7B1 DARS1 DCTN1 DDHD1 DDHD2 DSTYK DYNC1H1 ENTPD1 ERBB4 ERLIN1 ERLIN2 EXOSC3 FA2H FARS2 FIG4 FUS GAD1 GARS1 GBA2 GCH1 GJC2 GM2A HACE1 HEXA HEXB HNRNPA1 HNRNPA2B1 HSPB1 HSPB8 HSPD1 IBA57 IFIH1 IGHMBP2 ITPR1 KCNA2 KDM5C KIDINS220 KIF1A KIF1C KIF5A L1CAM LYST MAG MARS1 MATR3 MFN2 MTRFR NARS2 NEFH NEK1 NIPA1 NT5C2 OPTN PARK7 PFN1 PGAP1 PLA2G6 PLP1 PNPLA6 POLR3A RAB3GAP2 REEP1 REEP2 RNF170 RTN2 SACS SARS2 SERAC1 SETX SIGMAR1 SLC16A2 SLC25A15 SLC33A1 SOD1 SPART SPAST SPG11 SPG21 SPG7 SPTAN1 SQSTM1 TARDBP TBK1 TECPR2 TFG TP73 TRPV4 TUBA4A TUBB4A UBAP1 UBQLN2 UCHL1 UNC13A UNC80 USP8 VAMP1 VAPB VCP VPS37A WASHC5 ZFYVE26 ZFYVE27
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Tempo estimado de entrega do resultado:
28 dias
           

Rett Syndrome (MECP2 MLPA)

This MLPA test identifies microdeletions or microduplications in MECP2 gene and allows the diagnosis of individuals with clinical suspicion of Rett syndrome. The Rett syndrome is a neu... Ver maisrological disease which particularly affects the female gender, causes changes in MECP2 gene, located in chromosome X. Variants detected only in MECP2 gene sequencing test (point mutations) are identified in 90% of the individuals affected by the syndrome. The gene microdeletions may also cause the disease and the MLPA test can be requested in case of negative result in the sequencing test.

Genes Analisados: MECP2
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Tempo estimado de entrega do resultado:
75 dias
           

Neuropathy Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais to different peripheral neuropathies, including different forms of Charcot-Marie-Tooth disease, sensitive-autonomic neuropathies, erythromelalgias and congenital insensitivity to pain. The panel also includes familial amyloidosis genes and distal spinal muscular atrophy (forms not related to SMN1/SMN2).

Genes Analisados: AAAS AARS1 ABHD12 AIFM1 AP1S1 ASAH1 ATL1 ATL3 ATP1A1 ATP7A BSCL2 CCT5... Ver mais CHCHD10 COA7 COQ7 COX6A1 CTDP1 CYP7B1 DCAF8 DHH DHTKD1 DMXL2 DNAJB2 DNM2 DNMT1 DST DYNC1H1 EGR2 ELP1 EXOC4 FBLN5 FBXO38 FGD4 FIG4 GAN GARS1 GBE1 GDAP1 GJB1 GNB4 GSN HARS1 HEXA HINT1 HK1 HMBS HSPB1 HSPB8 IARS2 IGHMBP2 INF2 JPH1 KARS1 KIF1A KIF1B KLC2 LAS1L LITAF LMNA LRSAM1 MARS1 MCM3AP MED25 MFN2 MME MORC2 MPZ MTMR2 MTRFR MYH14 NAGLU NDRG1 NEFH NEFL NGF NTRK1 OPA1 PDK3 PLEKHG5 PMP22 POLG POLG2 PRDM12 PRPS1 PRX RAB7A RETREG1 RNF170 SBF1 SBF2 SCN10A SCN11A SCN9A SCO2 SCP2 SETX SH3TC2 SIGMAR1 SLC12A6 SLC25A46 SLC52A2 SLC5A7 SMN1 SNAP29 SORD SOX10 SPG11 SPTBN4 SPTLC1 SPTLC2 SURF1 TBCE TDP1 TFG TK2 TRIM2 TRPV4 TTR UBA1 VAPB VCP WNK1 YARS1
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Tempo estimado de entrega do resultado:
28 dias
           

Rett Syndrome

This test performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of copies (CNV) through next generation sequencing (NGS) of MECP2 gene. The... Ver mais test allows the diagnosis of patients with suspected Rett syndrome. The Rett syndrome is a neurological disease that particularly affects the female gender, caused by changes to MECP2 gene, located in the long arm of chromosome X. Variants detected only in MECP2 gene sequencing test (point mutations) are identified in 90-95% of the individuals affected by the syndrome.

Genes Analisados: MECP2
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Tempo estimado de entrega do resultado:
28 dias
           

Neurofibromatosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of NF1 (Neurofibrom... Ver maisatosis type 1), NF2 (Neurofibromatosis type 2) and SPRED1 (Legius Syndrome) genes.

Genes Analisados: LZTR1 NF1 NF2 SMARCB1 SPRED1
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Tempo estimado de entrega do resultado:
28 dias
           

Myotonic Dystrophy Type II (CNBP expansion)

The test of CNBP gene expansion allows the diagnosis of individuals with clinical suspicion of myotonic dystrophy type II. The disease is characterized by myopathy, muscular weakness... Ver mais and other signs which include cardiac changes, cataracts and diabetes mellitus, among others. The DM type II is caused by the presence of abnormal expansion of tetranucleotide ‘CCTG’ in intron 1 of CNBP gene. This segment normally presents between 11 and 26 repetitions. In people with DM type II, the segment presents between 75 and 11,000 copies of ‘CCTG’.

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Tempo estimado de entrega do resultado:
75 dias
           

Myotonic Dystrophy Type I – Steinert (DMPK expansion)

The test of DMPK gene expansion allows the diagnosis of individuals with clinical suspicion of myotonic dystrophy type I – Steinert (DM type I). The myotonic dystrophy type I is a di... Ver maissease which causes weakness and progressive muscular atrophy. The disease can also be accompanied by other symptoms including cataracts, hormone and cardiac changes. DM type I is caused by an abnormal expansion of trinucleotide ‘CTG’ in DMPK gene. This segment normally presents between 5 and 34 ‘CTG’ repetitions. In people with DM type I, the segment presents between 50 and 5,000 ‘CTG’ repetitions. Expansions in the intermediate range (36 to 50 CTG repetitions), known as “pre-mutation”, do not cause the disease, however, there"s a risk for the carrier’s children because there can be an increase in the number of ‘CTG’ repetitions in the following generation.

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Tempo estimado de entrega do resultado:
75 dias
           

Muscular Dystrophy, Myopathy and Myasthenia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes c... Ver maisausing neuromuscular diseases. Different forms of congenital myopathy, muscular dystrophy and congenital myasthenias are included in this panel.

Genes Analisados: ABCC9 ACHE ACTA1 ACTG2 ACTN2 ADSS1 AGRN ALG14 ALG2 ALPK3 ANO5 ANXA11... Ver mais AP2A2 APOO ATP2A1 B3GALNT2 B4GAT1 BAG3 BIN1 CACNA1S CAP2 CAPN3 CASQ1 CAV3 CCDC78 CFL2 CHAT CHCHD10 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CLHC1 CNTN1 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRYAB DAG1 DES DLGAP2 DMD DNAJB4 DNAJB6 DNAJB7 DNM2 DNMT3A DOK7 DPAGT1 DPM1 DPM3 DYSF EMD FAM111B FDX2 FHL1 FILIP1 FKBP14 FKRP FKTN FLAD1 FLNC FXR1 GAA GFER GFPT1 GMPPB GNE GYG1 GYS1 HACD1 HNRNPA1 HNRNPA2B1 HSPB6 HSPB8 IGHMBP2 ISCU ITGA7 KBTBD13 KCNJ2 KIF5B KLHL40 KLHL41 KLHL9 KY LAMA2 LAMP2 LARGE1 LDB3 LMNA LMOD3 MAGEL2 MAP3K20 MATR3 MCM3AP MCOLN1 MEGF10 MFF MICU1 MLIP MSTO1 MTM1 MUSK MYBPC1 MYF6 MYH2 MYH7 MYL1 MYL2 MYO15B MYO18B MYOD1 MYOT MYPN NEB NRXN1 OPA1 ORAI1 PABPN1 PAX7 PHKA1 PLEC PNPLA2 PNPLA8 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP2R3C PUS1 PYGM PYROXD1 RAPSN RBCK1 RDH11 RFC4 RXYLT1 RYR1 RYR3 SCN4A SELENON SGCA SGCB SGCD SGCG SMPX SOX8 SPEG SPTAN1 SPTBN4 SQSTM1 STAC3 STIM1 SVIL TARDBP TCAP TGFB1 TIA1 TIMM22 TK2 TNNC2 TNNI1 TNNT1 TNNT3 TPM2 TPM3 TRAPPC2L TRIM32 TRIP4 TTN TUBA4A UNC45B VCP VMA21 YARS2
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Tempo estimado de entrega do resultado:
28 dias
           

MLPA for Spinal Muscular Amyotrophy (SMA)

This MLPA test identifies microdeletions or microduplications in exons 7 and 8 of SMN1 and SMN2 genes and allows the diagnosis of individuals with clinical suspicion of Progressive Spin... Ver maisal Atrophy (PSA), also known as Spinal Muscular Atrophy (SMA) PSA is a neurodegenerative disease characterized by the loss of motor neurons leading to weakness and muscular atrophy. Pathogenic variants in SMN1 gene cause the disease. Around 95% of the patients with PSA are carriers of microdeletion which comprises the two copies of exon 7 of SMN1 gene (maternal and paternal copies). Around 5% of the people with the disease, are carriers of microdeletion of exon 7 in one of the copies of the gene and in the other copy are carriers of changes detected only in sequencing tests (point mutations) of SMN1 gene. The number of copies of SMN2 gene is significantly variable in the population and the identification of this number in patients with PSA is also important to determine the severity of the disease and the starting age, once the gene, along with SMN1, modulates the phenotype of these patients.

Genes Analisados: SMN1 SMN2
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Tempo estimado de entrega do resultado:
30 dias
           

MLPA for DMD

This MLPA test identifies microdeletions or microduplications in DMD gene and allows the diagnosis of individuals with clinical suspicion of Duchenne muscular dystrophy. The Duchenne... Ver mais muscular dystrophy is a X-linked genetic disease with recessive inheritance, affecting especially men. The disease is characterized by weakness and progressive muscular loss (atrophy) and dilated cardiomyopathy. More than 5,000 variants in DMD gene were identified in people with Duchenne muscular dystrophy. Microdeletions or microduplications comprising DMD exons cause most of the disease cases (65-80%). Variants detected only in DMD gene sequencing test (point mutations) are identified in 20-35% of the individuals affected by the syndrome.

Genes Analisados: DMD
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Tempo estimado de entrega do resultado:
30 dias
           

Leukodystrophies Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 139 genes which... Ver mais cause changes to the white substance of the central nervous system, including Adrenoleukodystrophy, Canavan disease, Vanishing White Matter and peroxisomal diseases such as Refsum and Zellweger.

Genes Analisados: AARS2 ABCD1 ACOX1 ADAR AIMP1 ALDH3A2 ARSA ASPA ATP7A ATP7B ATPAF2 BCAP31... Ver mais BCS1L CLCN2 COL4A1 COQ2 COQ8A COQ9 COX10 COX15 CSF1R CYP27A1 CYP2U1 CYP7B1 D2HGDH DARS1 DARS2 DGUOK EARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ERCC2 ERCC3 ERCC6 ERCC8 ETFDH FA2H FUCA1 GALC GBE1 GFAP GFM1 GJA1 GJC2 GLA GLB1 GM2A GTF2H5 HEPACAM HEXA HEXB HSD17B4 HSPD1 HTRA1 HYCC1 L2HGDH LAMA2 LMNB1 MCOLN1 MLC1 MPLKIP MRPS16 MTFMT NDUFAF1 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NOTCH3 NPC1 NPC2 OCLN OCRL PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHGDH PHYH PLP1 POLG POLG2 POLR3A POLR3B PPT1 PRF1 PSAP PSAT1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RRM2B SAMHD1 SCO1 SCP2 SDHA SDHAF1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPART SPAST SPG11 SPG21 SPG7 STX11 STXBP2 SUCLA2 SUMF1 SURF1 TACO1 TREX1 TUBB4A TUFM TWNK TYMP TYROBP UNC13D ZFYVE26
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Tempo estimado de entrega do resultado:
28 dias
           

Kennedy Disease (AR expansion)

This AR gene expansion test allows the diagnosis of individuals with clinical suspicion of Kennedy disease. The Kennedy disease, also called spinal and bulbar muscular atrophy, is a ne... Ver maisurodegenerative disease which affects motor neurons. The affected individuals present muscular weakness and atrophy. The Kennedy disease is caused by the abnormal expansion of ‘CAG’ trinucleotides in AR gene, located in chromosome X. This segment normally presents between 5 and 34 ‘CAG’ repetitions. In people with Kennedy disease, the segment contains more than 35 ‘CAG’ repetitions. The syndrome prevalently affects males.

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Tempo estimado de entrega do resultado:
75 dias
           

Huntington’s Disease (HTT expansion)

This HTT gene expansion test allows the diagnosis of individuals with clinical suspicion of Huntington disease. The Huntington disease is a neurodegenerative disease which causes motor... Ver mais, cognitive and psychiatric changes. The symptoms start in the adult age, generally between 35 and 44 years old. The Huntington disease is caused by the abnormal expansion of trinucleotide ‘CAG’ in HTT gene. This segment normally presents 35 or less ‘CAG’ repetitions. In people with Huntington disease, the "CAG" segment contains more than 35 ‘CAG’ repetitions. Individuals with 27 to 35 ‘CAG’ repetitions do not develop Huntington, but are at risk of having children affected by the disease. Note: this test is indicated for symptomatic patients (with clinical manifestation). For minors, the conduction of the test will be subject to analysis by our medical team.

Genes Analisados: HTT
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Tempo estimado de entrega do resultado:
30 dias
           

Hereditary Amyloidosis

This test conducts the sequencing and evaluation of the number of copies (CNV) of TTR gene through the NGS technique. The test allows the diagnosis of patients with suspected transthyre... Ver maistin-associated familial amyloidotic polyneuropathy (FAP). The FAP or Paramyloidosis is a condition with autosomal dominant inheritance, slowly progressive, characterized by the accumulation of abnormal deposits of a protein called amyloid (amyloidosis) in different organs and tissues of the body. When the condition results from mutations in the transthyretin gene (TTR), it’s also called transthyretin-related amyloidosis or simply TTR amyloidosis. More than 150 variants in TTR are associated with FAP, being Val50Met or V50M, the most frequent of them. Variants detected only in the TTR gene sequencing test (point mutations) are identified in more than 99% of the individuals affected by the syndrome.

Genes Analisados: TTR
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Tempo estimado de entrega do resultado:
28 dias
           

Friedreich’s ataxia (FXN expansion)

This FXN gene expansion test allows the diagnosis of individuals with clinical suspicion of Friedreich ataxia. Friedreich ataxia is a disease which affects the nervous system and cause... Ver maiss ataxia before 25 years old. The disease is caused by the abnormal increase (expansion) of trinucleotides ‘GAA" in intron 1 of FXN gene. This segment normally contains between 5 and 33 ‘GAA’ repetitions. In people with Friedreich ataxia, the ‘GAA’ segment presents between 66 and 1,000 repetitions. On very rare ocasions (< 3% of the cases), variants in the FXN codifying region and detectable in sequencing tests may also cause the disease.

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Tempo estimado de entrega do resultado:
75 dias
           

Fragile-X Syndrome (FMR1 expansion)

The molecular test of FMR1 gene allows the diagnosis of individuals with clinical suspicion of X-Fragile syndrome (XFS), the main genetic cause of intellectual disability after Down syn... Ver maisdrome. The XFS is caused by the abnormal expansion of trinucleotide ‘CGG’ in FMR1 gene, located in chromosome X, and particularly affects male individuals. This segment normally presents between 5 and 44 ‘CGG’ repetitions. In people with X-Fragile Syndrome, the ‘CGG’ segment presents more than 200 repetitions. Individuals with 55 to 200 ‘CAG’ repetitions, called “pre-mutation” do not develop the X-Fragile Syndrome, but women with expansions in this range are at risk of having children with the disease.

Genes Analisados: FMR1
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Tempo estimado de entrega do resultado:
30 dias
           

Expanded Epilepsy Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with conditions including epilepsy, notedly epileptic encephalopaties and epilepsies of difficult control with drugs, as the main symptom, including Dravet syndrome, ceroid lipofuscinosis, tuberous sclerosis, non-ketotic hyperglycinemia and several other diseases.

Genes Analisados: AARS1 ABAT ACER3 ACTL6B ACY1 ADAM22 ADAR ADGRG1 ADGRV1 ADNP ADPRS ADSL... Ver mais AFF3 AGO1 AIMP1 AIMP2 ALDH5A1 ALDH7A1 ALG1 ALG12 ALG13 ALG14 ALG3 ALG6 ALG9 AMACR AMT ANKRD11 AP1G1 AP2M1 AP3B2 ARF1 ARFGEF2 ARG1 ARHGEF9 ARID1B ARSA ARV1 ARX ASAH1 ASNS ASPA ATAD1 ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B1 ATP6AP2 ATP6V0A2 ATP6V0C ATP6V1A ATP7A ATP8A2 ATRX BCKDK BOLA3 BRAF BRAT1 BSCL2 BTD C12orf57 C2orf69 CACNA1A CACNA1B CACNA1D CACNA1E CACNA1I CACNA2D2 CACNB4 CAD CAMK2A CAMK2B CARS2 CASK CASR CCDC88A CDK19 CDK5 CDKL5 CERS1 CHD2 CHD5 CHRNA2 CHRNA4 CHRNB2 CIC CILK1 CLCN2 CLCN3 CLCN4 CLCN6 CLDN5 CLN3 CLN5 CLN6 CLN8 CLTC CNKSR2 CNNM2 CNPY3 CNTN2 CNTNAP2 COG5 COG7 COL18A1 COL4A1 COL4A2 COQ2 COQ4 CPA6 CPLX1 CRELD1 CSNK2B CSTB CTNNB1 CTSD CTSF CUL4B CUX2 CYFIP2 CYP27A1 D2HGDH DCX DDC DDX3X DEAF1 DEGS1 DENND5A DEPDC5 DHCR7 DHDDS DHFR DHPS DIAPH1 DLAT DMXL2 DNAJC5 DNM1 DNM1L DOCK7 DPAGT1 DPM1 DYNC1H1 DYRK1A EARS2 ECHS1 EEF1A2 EHMT1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF3F EMC1 EML1 EMX2 EPG5 EPM2A ETHE1 EXT2 FAR1 FARS2 FBXO11 FDFT1 FGF12 FGF13 FKTN FLNA FOLR1 FOXG1 FOXP1 FRRS1L FUCA1 FUT8 FZR1 GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GALC GAMT GATAD2B GATM GBA1 GCH1 GCSH GFAP GFM1 GLB1 GLDC GLRA1 GLRB GLS GLUD1 GM2A GNAO1 GNB1 GOSR2 GOT2 GPAA1 GPHN GRIA3 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GRN GTPBP3 HACE1 HCN1 HCN2 HDAC8 HECW2 HEPACAM HEXA HEXB HNRNPU IER3IP1 IFIH1 IQSEC2 IRF2BPL ITPA KANSL1 KAT5 KATNB1 KCNA1 KCNA2 KCNB1 KCNC1 KCNC2 KCND2 KCNH1 KCNH2 KCNH5 KCNJ10 KCNJ11 KCNK4 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCNT2 KCTD17 KCTD3 KCTD7 KDM5C KIF1A KIF2A KIF5A KIF5C KMT2E KPNA7 KPTN LAMB1 LAMC3 LGI1 LIAS LMBRD2 LMNB2 MACF1 MAST3 MBD5 MBOAT7 MDH2 MECP2 MED12 MED17 MEF2C MFSD8 MLC1 MOCS1 MOCS2 MOGS MPDU1 MTHFR MTOR NACC1 NAGLU NALCN NARS1 NBEA NCDN NDE1 NDUFAF5 NDUFS4 NDUFS8 NDUFV1 NECAP1 NEDD4L NEUROD2 NEXMIF NGLY1 NHLRC1 NHLRC2 NPC1 NPC2 NPRL2 NPRL3 NR4A2 NRXN1 NSD1 NSDHL NTRK2 NUS1 OCLN OPHN1 OSGEP OTUD6B P4HTM PACS1 PACS2 PAFAH1B1 PCDH12 PCDH19 PCDHGC4 PCLO PDE2A PDHA1 PDHX PDP1 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHACTR1 PHGDH PIGA PIGB PIGC PIGF PIGG PIGN PIGO PIGP PIGQ PIGT PIGV PIGW PIK3C2B PLAA PLCB1 PLPBP PNKD PNKP PNPO PNPT1 POLG POLG2 POMT1 PPP2CA PPP2R1A PPP2R5D PPP3CA PPT1 PRDM8 PRICKLE1 PRICKLE2 PRIMA1 PRMT7 PRRT2 PSAP PSAT1 PSPH PTEN PTPN23 PURA QARS1 QDPR RAB11A RAB11B RAB39B RAB3GAP1 RAC3 RAI1 RALA RANBP2 RBFOX1 RELN RFT1 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNF13 ROGDI RORB RPH3A RTN4IP1 RTTN RUSC2 SAMHD1 SARS1 SATB1 SATB2 SCAF4 SCAMP5 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCP2 SERPINI1 SETBP1 SETD1B SGCE SGSH SHH SIK1 SIX3 SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC25A12 SLC25A22 SLC2A1 SLC32A1 SLC35A2 SLC35A3 SLC45A1 SLC6A1 SLC6A5 SLC6A8 SLC6A9 SLC9A6 SMARCA2 SMC1A SMS SNAP25 SNIP1 SNX27 SPTAN1 SPTBN1 ST3GAL3 ST3GAL5 STAG2 STRADA STX1B STXBP1 STXBP2 SUMF1 SUOX SURF1 SYN1 SYNGAP1 SYNJ1 SZT2 TANGO2 TBC1D24 TBCD TBCK TBL1XR1 TCEAL1 TCF4 TH TIAM1 TK2 TMTC3 TNPO2 TPK1 TPP1 TRAPPC6B TREX1 TRIM8 TRIO TSC1 TSC2 TSFM TUBA1A TUBA8 TUBB2A TUBB2B TUBB3 TUBG1 UBA5 UBE2A UBE3A UBR7 UBTF UFC1 UFM1 UNC79 UNC80 VARS1 VRK2 WASF1 WDR37 WDR45 WDR45B WWOX YWHAG ZDHHC9 ZEB2 ZNF142 ZSWIM6
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Tempo estimado de entrega do resultado:
28 dias
           

Early-Onset Neuromuscular Disorders Panel

The DNAmplo diagnostic support program offers a free next generation sequencing (NGS) panel exam that includes genes related to Early-Onset Neuromuscular Disorders. Only available in Br... Ver maisazil.

Genes Analisados: AGL ALDOA ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BVES C1QBP CAPN3 CASQ1 CAV3... Ver mais CHCHD10 COQ2 COQ8A CPT1A CPT2 CRPPA CRYAB DAG1 DDC DES DGUOK DMD DNA2 DNAJB4 DNAJB6 DPM1 DPM2 DPM3 DYSF EMD ETFA ETFB ETFDH FHL1 FKRP FKTN FLAD1 FLNC GAA GATM GFPT1 GGPS1 GMPPB GNE GOSR2 HNRNPA1 HNRNPA2B1 HNRNPDL INPP5K LAMA2 LAMP2 LARGE1 LIMS2 LMNA LPIN1 MATR3 MICU1 MLIP MSTO1 MYH7 MYL2 MYMK MYOT ORAI1 PGK1 PLEC PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPP2R3C PYGM PYROXD1 RXYLT1 RYR1 SDHA SELENON SGCA SGCB SGCD SGCG SIL1 SMN1 STIM1 SVIL SYNE1 SYNE2 TCAP TIA1 TIMM22 TK2 TMEM43 TNNI1 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TSFM TTN TWNK VCP VMA21 XK
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Tempo estimado de entrega do resultado:
28 dias
           

Early-onset Neurodevelopmental and Movement Disorders Panel

Painel de Distúrbios do Movimento

Genes Analisados: AARS2 ABAT ACAD9 ACTL6B ADCY5 ALDH5A1 ALDH7A1 ALG13 AMACR AP3B2 ARHGEF9 ARX... Ver mais ATP1A2 ATP1A3 ATP7A ATP7B ATP8A2 BCAP31 CACNA1A CACNA1B CDKL5 COQ4 COQ7 COQ9 COX20 COX6B1 CPT1A CTDP1 DDC DDX3X DEAF1 DGUOK DHDDS DHX30 DMD DNAJC12 FBXL4 FOLR1 FOXG1 FRRS1L GABRA1 GABRA2 GABRB3 GABRG2 GAMT GATM GBA1 GCDH GCH1 GNAO1 GNB2 GRIA4 GRIN1 GRIN2B GRIN2D HADHB HMBS HPRT1 IQSEC2 IREB2 IRF2BPL KCNA2 KCNMA1 KCNT1 KCNT2 MAN2B1 MCOLN1 MECP2 MEF2C MGME1 MPV17 NACC1 NGLY1 NKX2-1 NPC1 NPC2 PCBD1 PDE10A PDE2A PGM1 PLPBP PNKD PNPO POLG POLG2 PRRT2 PTS PURA QDPR RRM2B SDHA SLC13A5 SLC16A2 SLC18A2 SLC1A2 SLC25A3 SLC25A4 SLC25A42 SLC2A1 SLC30A10 SLC6A1 SLC6A3 SPR SPTAN1 SUCLA2 SUCLG1 SYT1 TBC1D24 TBL1XR1 TELO2 TH TPP1 TWNK TYMP UBA5 VAMP2 WARS2 WDR45 WWOX ZNF142 ZSWIM6
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Tempo estimado de entrega do resultado:
28 dias
           

Early-Onset Neuromuscular Disorders Expanded Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with neuromuscular disorders. Different forms of muscular dystrophies, myopathies, amyotrophies and myasthenias are included in this panel.

Genes Analisados: AARS2 ABCC9 ABHD5 ACAD9 ACADM ACADVL ACHE ACTA1 ACTG2 ACTN2 ADGRG6 ADSS1... Ver mais AGK AGL AGRN ALDOA ALG14 ALG2 ALPK3 AMACR ANO5 ANXA11 AP2A2 APOO ASAH1 ASCC1 ATAD1 ATP2A1 ATP7A ATP7B ATPAF2 B3GALNT2 B4GAT1 BAG3 BCS1L BICD2 BIN1 BVES C1QBP CACNA1S CAP2 CAPN3 CASQ1 CAV3 CCDC78 CFL2 CHAT CHCHD10 CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCN1 CLHC1 CNTN1 COA5 COA6 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COL9A3 COLQ COQ2 COQ4 COQ7 COQ8A COQ9 COX15 COX20 COX6B1 CPNE6 CPT1A CPT2 CRPPA CRYAB CTDP1 CYP7B1 DAG1 DDC DES DGUOK DLGAP2 DMD DNA2 DNAJB2 DNAJB4 DNAJB6 DNAJB7 DNM2 DNMT3A DOK7 DPAGT1 DPM1 DPM2 DPM3 DYNC1H1 DYSF ECEL1 EMD ENO3 ETFA ETFB ETFDH FAM111B FBXL4 FBXO38 FDX2 FHL1 FILIP1 FKBP14 FKRP FKTN FLAD1 FLNC FXR1 GAA GATM GBE1 GFER GFPT1 GGPS1 GLDN GLE1 GMPPB GNE GOSR2 GYG1 GYS1 HACD1 HADH HADHA HADHB HEXA HMBS HNRNPA1 HNRNPA2B1 HNRNPDL HSPB6 HSPB8 IGHMBP2 INPP5K ISCU ITGA7 JAG2 KBTBD13 KCND2 KCNJ2 KIF22 KIF5B KLHL40 KLHL41 KLHL9 KY LAMA2 LAMA5 LAMB2 LAMP2 LARGE1 LAS1L LDB3 LDHA LIMS2 LMNA LMOD3 LPIN1 LRP4 MAGEL2 MAN2B1 MAP3K20 MATR3 MCM3AP MCOLN1 MEGF10 MFF MGME1 MICU1 MLIP MME MPV17 MRPS34 MSTO1 MTM1 MUSK MYBPC1 MYF6 MYH1 MYH2 MYH3 MYH7 MYL1 MYL2 MYMK MYO15B MYO18B MYO9A MYOD1 MYOT MYPN NALCN NDUFS4 NEB NRXN1 NSUN3 NTRK1 OBSCN OPA1 OPA3 ORAI1 PAX7 PDSS1 PDSS2 PFKM PGAM2 PGK1 PGM1 PHKA1 PHKB PLEC PLEKHG5 PNPLA2 PNPLA8 POGLUT1 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPP2R3C PREPL PUS1 PYGL PYGM PYROXD1 RAPSN RBCK1 RBM7 RDH11 RFC4 RNASEH1 RRM2B RXYLT1 RYR1 RYR3 SCN4A SDHA SELENON SETX SGCA SGCB SGCD SGCG SIGMAR1 SIL1 SLC18A3 SLC22A5 SLC25A1 SLC25A20 SLC25A3 SLC25A4 SLC25A42 SLC52A2 SLC52A3 SLC5A7 SMCHD1 SMN1 SMPX SNAP25 SOX8 SPEG SPTAN1 SPTBN4 SQSTM1 STAC3 STIM1 SUCLA2 SUCLG1 SURF1 SVIL SYNE1 SYNE2 SYT2 TAFAZZIN TANGO2 TARDBP TBCK TCAP TEFM TIA1 TIMM22 TK2 TMEM43 TNNC2 TNNI1 TNNI2 TNNT1 TNNT3 TNPO3 TOR1AIP1 TPM2 TPM3 TRAPPC11 TRAPPC2L TRDN TRIM32 TRIP4 TRMT5 TRPV4 TSFM TTN TUBA4A TWNK TYMP UBA1 UNC45B VAMP1 VAPB VCP VMA21 VWA1 XK YARS2 ZBTB20
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Tempo estimado de entrega do resultado:
28 dias
           

Dystonia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes... Ver mais causing dystonias, including genes associated to Dopa-Responsive Dystonia, DYT1, and several others.

Genes Analisados: ACTB ADCY5 ANO3 ARG1 ARSA ATM ATP1A3 ATP7B BCAP31 CACNA1B COL6A3 CP... Ver mais CYP27A1 DDC GCDH GCH1 GNAL GNAO1 HEXA HPCA HPRT1 KCNMA1 KCTD17 KMT2B MECR MRE11 PANK2 PCNA PLA2G6 PNKD PRKN PRKRA PRRT2 RELN SGCE SLC2A1 SLC30A10 SLC39A14 SLC6A3 SPR TAF1 TH THAP1 TIMM8A TOR1A TUBB4A VAC14 VPS13A VPS13D WDR45 XPR1
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Tempo estimado de entrega do resultado:
28 dias
           

Dementia and Parkinson’s Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 60 genes involve... Ver maisd in early and/or familial forms of Alzheimer’s Disease, Frontotemporal Dementia, Parkinson’s Disease and Alexander Disease. This test does not include the analysis of the APOE4 (apolipoprotein E) allele or the expansion in the C9orf72 gene, which should be requested separately.

Genes Analisados: ABCD1 APP ARSA ATP13A2 ATP1A3 ATP7B CHCHD10 CHMP2B CSF1R CYP27A1 DCTN1 DNAJC6... Ver mais EIF4G1 FBXO7 FUS GALC GBA1 GCH1 GFAP GLA GRN HEXA HNRNPA2B1 HTRA2 ITM2B LMNB1 LRRK2 MAPT NOTCH3 NPC1 NPC2 OPTN PANK2 PARK7 PINK1 PLA2G6 PNKD POLG PPT1 PRKN PRKRA PRNP PRRT2 PSAP PSEN1 PSEN2 SGCE SLC2A1 SLC6A3 SNCA SOD1 SORL1 SPG11 SPR SQSTM1 TARDBP TH THAP1 TOR1A TREM2 TYROBP UBQLN2 UCHL1 VAPB VCP VPS35
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Tempo estimado de entrega do resultado:
28 dias
           

Charcot-Marie-Tooth Type 1A and HNPP (MLPA for PMP22)

This MLPA test indentifies microdeletions or microduplications in PMP22 gene and allows the diagnosis of individuals with clinical suspicion of Charcot-Marie-Tooth type 1A (CMT type 1A)... Ver mais and HNPP – hereditary neuropathy with pressure palsy. The Charcot-Marie-Tooth disease is the most frequent hereditary peripheral neuropathy in the population. There are several disease subtypes. Changes in PMP22 gene are responsible for ~ 70-80% of all the CMT type 1 cases. This form of disease, also called CMT type 1A, is caused mainly by a microduplication of ~1.5 Mb in the short arm of chromosome 17, including PMP22 gene. The microdeletion of the same segment of ~ 1.5 Mb causes another disease, the hereditary neuropathy with pressure palsy (HNPP). Microdeletion is present in approximately 80% of the affected individuals; and the other 20% are carriers of changes in PMP22 gene detectable only in the sequencing test.

Genes Analisados: PMP22
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Tempo estimado de entrega do resultado:
75 dias
           

Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (RFC1 expansion)

This RFC1 gene expansion test allows the diagnosis of individuals with clinical suspicion of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). This test detects th... Ver maise expansion (abnormal increase) of pentanucleotides ‘AAGGG’ in the RFC1 gene.

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Tempo estimado de entrega do resultado:
75 dias
           

CADASIL

This test conducts the sequencing and evaluation of the number of copies (CNV) of NOTCH3 gene through the NGS technique. The test allows the diagnosis of patients with suspected cerebra... Ver maisl arteriopathy, a disease known as CADASIL. CADASIL is a neurogenetic disease caused by pathogenic variants in NOTCH3 gene. It’s clinically characterized by recurrent ischemic attacks, headache, progressive cognitive decline and psychiatric disorders. More than 270 variants in NOTCH3 have already been associated to CADASIL. Variants detected only in NOTCH3 gene sequencing test (point mutations) are identified in more than 95% of the affected individuals.

Genes Analisados: NOTCH3
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Tempo estimado de entrega do resultado:
28 dias
           

C9orf72 Gene Expansion – DESATIVADO

This C9orf72 gene expansion test allows the diagnosis of individuals with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), of early onset or with familial recurren... Ver maisce. The ALS is a progressive disease that affects the motor neurons, specialized cells that control the muscular movement and are found in the spinal cord and in the brain. In ALS, the motor neurons die (atrophy) over time, leading to muscular weakness, loss of muscular mass and inability to control the movement. One of the familial ALS forms is caused by the abnormal increase of hexanucleotide ‘GGGGCC’ expansion in C9orf72 gene. This segment normaly presents less than 25 repetitions. In people with ALS associated withC9orf72 gene, the "GGGGCC’ segment presents more than 60 ‘GGGGCC’ repetitions. Around 20% of the patients with ALS caused by the expansion of C9orf72 gene may also develop frontotemporal dementia (FTD), progressive cerebral disorder which affects the personality, the behavior and the language. It’s important to emphasize that other genes also cause familial ALS (SOD1, TARDBP, FUS among others).

Genes Analisados: C9orf72
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Tempo estimado de entrega do resultado:
75 dias
           

Autism Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes which were... Ver mais previously associated to the Autism Spectrum Disorder (ASD).

Genes Analisados: ACTB ACTG1 ADNP ADSL AGA AHDC1 ALDH5A1 ALDH7A1 AMER1 ANK2 ANK3 ANKRD11... Ver mais AP1S2 ARG1 ARHGEF9 ARID1A ARID1B ARSA ARX ASH1L ASNS ASXL1 ASXL3 ATP1A3 ATP7A ATRX AUTS2 BAZ2B BCAP31 BCKDK BCL11A BRAF BRAT1 BRD4 BRSK2 BRWD3 C12orf57 CACNA1A CACNA1C CACNA1E CAMK2A CAMK2B CASK CBL CC2D1A CC2D2A CDC42BPB CDK13 CDKL5 CHAMP1 CHD2 CHD3 CHD7 CHD8 CIC CLCN4 CLN3 CLN5 CLN6 CLTC CNOT3 CNTNAP2 COL4A1 CREBBP CSDE1 CTCF CTNNB1 CTNND2 CUL3 DDC DDX3X DEAF1 DHCR7 DISC1 DLG4 DNM1L DNMT3A DOCK6 DPF2 DSCAM DYNC1H1 DYRK1A EBF3 EEF1A2 EFTUD2 EHMT1 EP300 EZH2 FGD1 FOLR1 FOXG1 FOXP1 FOXP2 GABBR2 GABRB3 GABRG2 GALC GAMT GATAD2B GATM GIGYF1 GLB1 GM2A GNAO1 GNAS GNS GPC3 GRIA1 GRIA3 GRIN1 GRIN2A GRIN2B GRIP1 HCN1 HDAC8 HEXA HEXB HGSNAT HIVEP2 HNRNPH2 HNRNPK HNRNPU HRAS HUWE1 IDS IDUA IGF1R IL1RAPL1 IQSEC2 IRF2BPL ITPR1 KANSL1 KAT6A KAT6B KCNA2 KCNB1 KCNH1 KCNQ2 KCNQ3 KCNT1 KDM3B KDM5B KDM5C KDM6A KDM6B KIF1A KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KRAS L1CAM LZTR1 MAGEL2 MAN1B1 MAOA MAP2K1 MBD5 MBOAT7 MECP2 MED12 MED13 MED13L MEF2C MEIS2 MFSD8 MID1 MTOR MYT1L NAA10 NAA15 NACC1 NAGLU NALCN NBEA NDP NEXMIF NF1 NFIA NFIX NGLY1 NHS NIPBL NLGN3 NLGN4X NONO NPC1 NR2F1 NR4A2 NRAS NRXN1 NRXN3 NSD1 NSUN2 OCRL OPHN1 OTC PACS1 PACS2 PAH PCBD1 PCDH19 PDHA1 PGAP3 PHF21A PHF3 PHF6 PHIP PLA2G6 PMM2 POGZ POLG POMGNT1 PPM1D PPP1CB PPP2R1A PPP2R5D PPP3CA PPT1 PQBP1 PRR12 PSMD12 PTCHD1 PTEN PTPN11 PTS PURA QDPR RAB39B RAD21 RAI1 RBM10 RELN RERE RFX3 RIT1 RPL10 RPS6KA3 SATB2 SCN1A SCN1B SCN2A SCN3A SCN8A SETBP1 SETD2 SETD5 SGSH SHANK1 SHANK2 SHANK3 SHOC2 SIN3A SLC13A5 SLC16A2 SLC2A1 SLC6A1 SLC6A8 SLC9A6 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1 SMC1A SMC3 SON SOS1 SOS2 SOX11 SOX5 SPAST SPTAN1 STAG1 STXBP1 SURF1 SYN1 SYNGAP1 TAF1 TANC2 TAOK1 TBC1D20 TBCK TBL1XR1 TBR1 TCF20 TCF4 TELO2 TLK2 TNRC6B TRAF7 TRAPPC9 TRIO TRIP12 TRRAP TSC1 TSC2 TSHZ3 TUBA1A UBE3A UNC80 UPF3B USP9X VPS13B WAC WDFY3 WDR45 WWOX ZBTB18 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZIC2 ZMIZ1 ZMYND11 ZNF292 ZNF407 ZNF462
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Tempo estimado de entrega do resultado:
28 dias
           

Ataxia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais recessive and dominant forms of ataxia. This panel includes the investigation for Ataxia-Teleangiectasia, Ataxia with Oculomotor Apraxia, among others. It’s important to emphasize that this test sequences the gene codifying regions of the panel and does not test the presence of expansion which are the main cause of many autosomal dominant inheritance ataxias with onset in the adult age (SCA1, SCA2, SCA3, SCA6, SCA7, SCA10, SCA12, DRPLA, or others). For this reason, for cases of dominant ataxias of onset in the adult age, the test must be preceded by the Expansion Ataxia Panel. It also does not evaluate the expansion in FXN gene generally associated with Friedreich ataxia.

Genes Analisados: ABCA2 ABCB7 ABHD12 ACO2 ADPRS AFG3L2 ANO10 APOB APTX ATCAY ATG4D ATG5... Ver mais ATG7 ATM ATP1A3 ATP2B3 ATP8A2 BCKDHA BEAN1 CA8 CACNA1A CACNA1G CACNB4 CAMTA1 CCDC88C CHP1 CLCN2 CLN5 COA7 COQ2 COQ4 COQ8A CTBP1 CWF19L1 CYP27A1 DDC DHX30 DNAJC3 DNMT1 DOCK3 EBF3 ELOVL4 ELOVL5 EP300 FGF14 FLVCR1 FRMD4A FXN GARRE1 GLS GOSR2 GRID2 GRM1 HSD17B4 IRF2BPL ITPR1 KCNA1 KCNC3 KCND3 KCNJ10 KIF1A KIF1C KIF26B KMT2B LAGE3 LAMA1 MARS2 MRE11 MSTO1 MTPAP MTTP NARS1 NPC1 NPC2 NPTX1 NUP107 NUP133 OPA1 OSGEP PCNA PDSS1 PDSS2 PDYN PEX7 PHYH PMPCA PNKP PNPLA6 PNPLA8 POLG POU4F1 PRDX3 PRKCG PRNP PTF1A PUM1 RAB1A RAB3A RFC4 RNF170 RNF220 RNU12 RORA RTN4IP1 RUBCN SACS SAMD9L SARS1 SCN2A SETX SIL1 SLC1A3 SLC2A1 SLC44A1 SPG7 SPTBN2 SVBP SYNE1 SYT14 TDP1 TDP2 TGM6 TP53RK TPP1 TPRKB TTBK2 TTPA TUBB2A TWNK TXN2 VAMP1 VLDLR VPS13D VPS41 VWA3B WDR4 WDR73 WDR81 WFS1 WWOX XPNPEP3 XRCC1 ZBTB47 ZFHX3
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Tempo estimado de entrega do resultado:
28 dias
           

Array

The SNP-array test simultaneously investigate thousands of regions in the human genome to identify variations in the number of copies (CNV; Copy Number Variations). The CNV covers delet... Ver maisions (loss) or duplications (gains) which may affect one or more genes and even large chromosomal segments. The microarray can diagnose patients with suspected microdeletion and microduplication syndromes and is recommended to clarify several clinical suspicions of unknown cause, including intellectual disability and congenital malformations. The high density SNP-array provides the following advantages: - High resolution for CNV identification. - Increased coverage in dosage-sensitive genes. - Detection of mosaic changes and absence of heterozygosity (AOH).

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Tempo estimado de entrega do resultado:
30 dias
           

APC MLPA

This MLPA test identifies microdeletions or microduplications in APC gene. The test is indicated for individuals with clinical suspicion of familial adenomatous polyposis (FAP). FAP is... Ver mais caused by the presence of heterozygous pathogenic variants in the APC gene and is characterized by the presence of multiple adenomatous polyps in the entire gastrointestinal tract, particularly in the colon. Variants detected only in APC gene sequencing test (point mutations) are identified in 90% of the individuals affected by the disease. The microdeletions or microduplications, are responsible for the remaining cases.

Genes Analisados: APC
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Tempo estimado de entrega do resultado:
45 dias
           

ATM MLPA

This MLPA test identifies microdeletions or microduplications in ATM gene and allows the diagnosis of individuals with clinical suspicion of ataxia-telangiectasia or hereditary cancer.... Ver mais Ataxia-telangiectasia is a disease which affects the nervous system, the immune system and other body systems. Pathogenic variants in both copies of ATM gene cause the disease. Variants in a single copy predispose to breast cancer and other types of cancer. Variants detected only in ATM gene sequencing test (point mutations) are identified in 90% of the cases. Microdeletions or microduplications are responsible for around 1-2% of the cases.

Genes Analisados: ATM
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Tempo estimado de entrega do resultado:
45 dias
           

BRCA1 MLPA

This MLPA test identifies microdeletions or microduplications in BRCA1 gene. The test is indicated for patients with suspected hereditary breast and ovary cancer. Heterozygous pathoge... Ver maisnic variants in BRCA1 significantly increase the risk of developing breast cancer (risk of 46% to 87%) and ovary cancer. Variants detected only in BRCA1 gene sequencing test (point mutations) are identified in >80% of the cases. Microdeletions or microduplications are responsible for around 10% of the cases. BRCA1 gene variants can also indicate predisposition to other types of hereditary tumors including prostate and pancreatic cancers.

Genes Analisados: BRCA1
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Tempo estimado de entrega do resultado:
20 dias
           

BRIP1 MLPA

This MLPA test identifies microdeletions or microduplications in BRIP1 gene. The test is indicated for individuals with clinical suspicion of hereditary breast cancer. Heterozygous pat... Ver maishogenic variants in BRIP1 gene may predispose to the development of breast cancer. Variants detected only in BRIP1 gene sequencing test (point mutations) are more frequently identified in individuals affected by the disease. Microdeletions or microduplications are responsible for a minority of the cases.

Genes Analisados: BRIP1
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Tempo estimado de entrega do resultado:
45 dias
           

BRCA2 MLPA

This MLPA test identifies microdeletions or microduplications in BRCA2 gene. The test is indicated for patients with clinical suspicion of hereditary breast and ovary cancer. Heterozy... Ver maisgous pathogenic variants in BRCA2 gene significantly increase the risk of developing breast cancer (risk of 38% to 84%) and ovary cancer. Variants detected only in BRCA2 gene sequencing test (point mutations) are identified in >80% of the cases. Microdeletions or microduplications are responsible for around 10% of the cases. BRCA2 gene changes can also indicate predisposition to other types of hereditary tumors including prostate and pancreatic cancers and melanoma.

Genes Analisados: BRCA2
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Tempo estimado de entrega do resultado:
20 dias
           

CDH1 MLPA

This MLPA test identifies microdeletions or microduplications in CDH1 gene. The test is indicated for individuals with clinical suspicion of hereditary diffuse gastric cancer (CDH1) and... Ver mais hereditary breast cancer. Heterozygous pathogenic variants in CDH1 predispose to diffuse gastric cancer. Most of the variants in CDH1 are only detected in CDH1 gene sequencing test (point mutations). Microdeletions or microduplications are responsible for around 4% of the cases. Changes in CDH1 gene also cause predisposition to breast cancer.

Genes Analisados: CDH1
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Tempo estimado de entrega do resultado:
45 dias
           

CDK4 MLPA

This MLPA test identifies microdeletions or microduplications in CDK4 gene. The test is indicated for individuals with clinical suspicion of malignant cutaneous melanoma. Pathogenic va... Ver maisriants in hetorozygosis in CDK4 gene, mostly in point mutations detected by gene sequencing, are associated withpredisposition to malignant cutaneous melanoma.

Genes Analisados: CDK4
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Tempo estimado de entrega do resultado:
45 dias
           

CDKN2A MLPA

This MLPA test identifies microdeletions or microduplications in CDKN2A gene. The test is indicated for individuals with clinical suspicion of familial malignant cutaneous melanoma. He... Ver maisterozygous pathogenic variants in CDKN2A gene, mostly point mutations, are associated withfamilial forms of malignant cutaneous melanoma. They may also cause increased risk for other types of cancer.

Genes Analisados: CDKN2A
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Tempo estimado de entrega do resultado:
45 dias
           

CHEK2 MLPA

This MLPA test identifies microdeletions or microduplications in CHEK2 gene (Checkpoint Kinase 2). The test is indicated for patients with clinical suspicion of hereditary cancer. Het... Ver maiserozygous pathogenic variants in CHEK2 gene may predispose to different types of tumors, notedly breast and prostate cancers.

Genes Analisados: CHEK2
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Tempo estimado de entrega do resultado:
45 dias
           

Hereditary Cancer Panel (Complete)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 265 genes relate... Ver maisd to hereditary cancer, including rarer forms such as hereditary melanoma, pheochromocytoma, Von Hippel Lindau disease, paraganglioma, cylindromatosis, Birt-Hogg-Dubé syndrome, Carney complex, xeroderma pigmentosum, rhabdoid teratoid tumor, hereditary leiomyomatosis syndrome and renal cancer, multiple osteochondromatosis (multiple exostosis), among others.

Genes Analisados: ACD AIP AKT1 ALK ANKRD26 APC ARMC5 ASCL1 ASXL1 ATM ATP4A ATR... Ver mais AXIN2 BAP1 BARD1 BLM BMPR1A BPGM BRAF BRCA1 BRCA2 BRIP1 BUB1B CABLES1 CASP10 CASP9 CBL CD70 CDC73 CDH1 CDH23 CDK12 CDK4 CDKN1B CDKN1C CDKN2A CEBPA CEP57 CHEK1 CHEK2 CREBBP CSF3R CTC1 CTNNA1 CTNNB1 CTR9 CYLD DDB2 DDX41 DICER1 DIS3L2 DKC1 DLST DNAJC21 DNMT3B DOCK8 EDN3 EFL1 EGFR EGLN1 EGLN2 EPAS1 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ETV6 EXT1 EXT2 EZH2 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FBXW7 FGFR1 FH FIBP FLCN FOXE1 G6PC1 GALNT12 GATA1 GATA2 GLMN GNAS GPC3 HCLS1 HIF3A HNF1A HNF1B HOXB13 HRAS IPMK JAG1 JAK2 KDM1A KDM3B KIF1B KIT KLLN KRAS LAPTM5 LDAH LIG4 LZTR1 MAD2L2 MAGT1 MAP2K1 MAP2K2 MAP3K1 MAX MBD4 MCM4 MDH2 MEN1 MET MITF MLH1 MLH3 MMP1 MNX1 MRE11 MSH2 MSH3 MSH6 MTAP MUTYH MYCN NBN NF1 NF2 NHP2 NME1 NOP10 NRAS NSD1 NTHL1 NTRK1 NYNRIN OS9 PALB2 PARN PAX5 PBRM1 PDGFB PDGFRA PDGFRB PHOX2B PIK3CA PMS2 POLD1 POLE POLH POT1 PPP2R2A PPP2R3B PRF1 PRKAR1A PSMC3IP PTCH1 PTCH2 PTEN PTPN11 RABL3 RAD50 RAD51 RAD51B RAD51C RAD51D RAD54L RAF1 RASA2 RASAL1 RB1 RBBP6 RECQL RECQL4 RET RFWD3 RHBDF2 RMI2 RNASEL RNF139 RNF43 RPS20 RRAS RSPO1 RTEL1 RUNX1 SAMD9 SAMD9L SASH1 SBDS SDHA SDHAF2 SDHB SDHC SDHD SEC23B SETBP1 SH2B3 SH2D1A SHOC2 SLC25A11 SLX4 SMAD4 SMARCA4 SMARCAD1 SMARCB1 SMARCE1 SOS1 SPRTN SRP54 SRP72 STAT3 STK11 SUFU TERC TERF2IP TERT TET2 TEX15 TGFBR2 THSD1 TINF2 TMC6 TMC8 TMEM127 TOP3A TP53 TPCN2 TRIM28 TRIP13 TSC1 TSC2 UBE2T USP8 VHL WAS WIPF1 WRAP53 WRN WT1 WWOX XIAP XPA XPC XRCC2 ZNF687
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Tempo estimado de entrega do resultado:
28 dias
           

Hereditary Cancer Panel (Main Genes)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais the most common form of hereditary predisposition to cancer, including breast, ovary, endometrium, intestine/colorectal (polypoid and non-polypoid forms), prostate, gastric, multiple endocrine neoplasia (MEN1), pancreas, Li-Fraumeni Syndrome, among others.

Genes Analisados: APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A... Ver mais CHEK2 EGFR EPCAM FANCC FANCM MEN1 MET MLH1 MSH2 MSH3 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD51C RAD51D RECQL RET STK11 TP53
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Tempo estimado de entrega do resultado:
20 dias
           

MEN1 MLPA

This MLPA test identifies microdeletions or microduplications in MEN1 gene. The test is indicated for patients with clinical suspicion of multiple endocrine neoplasia type 1. Heterozyg... Ver maisous pathogenic variants in MEN1 gene are associated with multiple endocrine neoplasia type 1. Most of the variants in MEN1 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only 1-4% of the cases.

Genes Analisados: MEN1
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Tempo estimado de entrega do resultado:
45 dias
           

MET MLPA

This MLPA test identifies microdeletions or microduplications in MET gene. This test is indicated for patients with suspected hereditary cancer. Heterozygous pathogenic variants in MET... Ver mais gene, mostly of point mutation which are detected by gene sequencing, predispose to some hereditary cancer forms, particularly papillary carcinoma of renal cells.

Genes Analisados: MET
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Tempo estimado de entrega do resultado:
45 dias
           

MLPA for BAP1

This MLPA test identifies microdeletions or microduplications in BAP1 gene and allows the diagnosis of individuals with clinical suspicion of BAP1-associated tumor predisposition syndro... Ver maisme. Clinically relevant variants in BAP1 gene cause a tumor predisposition syndrome which increases the risk of some types of tumors, including uveal melanoma, malignant mesotelioma, cutaneous melanomas, basal cell carcinomas and renal cell carcinoma.

Genes Analisados: BAP1
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Tempo estimado de entrega do resultado:
45 dias
           

MLH1 MLPA

This MLPA test identifies microdeletions or microduplications in MLH1 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer. He... Ver maisterozygous pathogenic variants in MLH1 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). Most of the variants in MLH1 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only 5-10% of the cases. Changes to the MLH1 may also increase the risk for other types of cancer.

Genes Analisados: MLH1
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Tempo estimado de entrega do resultado:
45 dias
           

MSH2 MLPA

This MLPA test identifies microdeletions or microduplications in MSH2 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer. He... Ver maisterozygous pathogenic variants in MSH2 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). Most of the variants in MSH2 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for around 20% of the cases. Changes to the MSH2 may also increase the risk for other types of cancer.

Genes Analisados: MSH2
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Tempo estimado de entrega do resultado:
45 dias
           

MSH6 MLPA

This MLPA test identifies microdeletions or microduplications in MSH6 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer. He... Ver maisterozygous pathogenic variants in MSH6 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). The vast majority of the variants in MSH6 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only <5% of the cases. Changes to the MSH6 may also increase the risk for other types of cancer.

Genes Analisados: MSH6
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Tempo estimado de entrega do resultado:
45 dias
           

MUTYH MLPA

This MLPA test identifies microdeletions or microduplications in MUTYH gene. The test is indicated for individuals with clinical suspicion of familial adenomatous polyposis (FAP). The... Ver mais familial adenomatous polyposis is characterized by the presence of multiple adenomatous polyps in the entire gastrointestinal tract, particularly in the colon. The MUTYH is one of the genes which causes the disease. Variants detected only in MUTYH gene sequencing test (point mutations) are identified in 99% of the individuals affected by the disease. Microdeletions or microduplications in the gene are rare.

Genes Analisados: MUTYH
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Tempo estimado de entrega do resultado:
45 dias
           

Meningioma Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the most importa... Ver maisnt genes associated withhereditary susceptibility to Meningioma.

Genes Analisados: ARMC5 BAP1 LZTR1 PDGFB PTEN SMARCB1 SMARCE1 SUFU
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Tempo estimado de entrega do resultado:
45 dias
           

Multi-Cancer Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 69 genes which c... Ver maisause hereditary cancer, including the main genes which cause hereditary breast and ovary cancers.

Genes Analisados: AIP ALK APC ATM AXIN2 BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1... Ver mais CDC73 CDH1 CDK4 CDKN1B CDKN2A CHEK2 CTNNA1 DICER1 EGFR EPCAM FH FLCN HOXB13 KIT LZTR1 MAX MBD4 MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH NF1 NF2 NTHL1 PALB2 PDGFRA PMS2 POLD1 POLE POT1 PRKAR1A PTCH1 PTEN RAD51C RAD51D RB1 RET SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TMEM127 TP53 TSC1 TSC2 VHL
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Tempo estimado de entrega do resultado:
20 dias
           

PALB2 MLPA

This MLPA test identifies microdeletions or microduplications in PALB2 gene. The test is indicated for patients with clinical suspicion of hereditary breast and ovary cancer. Heterozyg... Ver maisous pathogenic variants in PALB2 gene are associated with predisposition, particularly to breast cancer.

Genes Analisados: PALB2
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Tempo estimado de entrega do resultado:
45 dias
           

PMS2 MLPA

This MLPA test identifies microdeletions or microduplications in the PMS2 gene. It is indicated for individuals with suspected Lynch syndrome and other hereditary cancers. Variants dete... Ver maiscted by PMS2 gene sequencing (point mutations) are identified in most cases. In about 20%, microdeletions or microduplications are associated.

Genes Analisados: PMS2
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Tempo estimado de entrega do resultado:
45 dias
           

PTEN MLPA

This MLPA test identifies microdeletions or microduplications in PTEN gene. The test is indicated for individuals with clinical suspicion of PTEN gen-related conditions (Cowden syndrome... Ver mais, Bannayan-Riley-Ruvalcaba syndrome, autism-microcephaly syndrome, Proteus syndrome, among others) Heterozygous pathogenic variants in PTEN gene may cause a broad clinical spectrum, from predisposition to hereditary cancer to conditions such as developmental delay, autism and macrocephaly. Most of the variants in PTEN gene are only detected in the PTEN gene sequencing test (point mutations). Microdeletions or microduplications in the AR gene are responsible for a up to 10% of the cases.

Genes Analisados: PTEN
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Tempo estimado de entrega do resultado:
45 dias
           

RB1 MLPA

This MLPA test identifies microdeletions or microduplications in RB1 gene. The test allows the diagnosis of patients with suspected hereditary Retinoblastoma. Retinoblastoma is a mali... Ver maisgnant tumor which develops in the retina, generally before five years old. The gene which causes the disease is RB1, a tumor suppressor gene, which regulates the cell growth. Genetic variants detected only in RB1 gene sequencing test (point mutations) are identified in 80% of the individuals affected by hereditary retinoblastoma. Microdeletions or microduplications (CNV) in the gen are responsible for up to 20% of the cases.

Genes Analisados: RB1
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Tempo estimado de entrega do resultado:
45 dias
           

Prostate Cancer Panel (HRR)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 40 genes related... Ver mais to hereditary prostate cancer.

Genes Analisados: ATM ATR BARD1 BLM BRCA1 BRCA2 BRIP1 CDH1 CDK12 CDK4 CDKN2A CHEK1... Ver mais CHEK2 EGFR EPCAM FANCA FANCC FANCL FANCM HOXB13 MEN1 MET MLH1 MRE11 MSH2 MSH6 NBN PALB2 PMS2 POLD1 POLE PTEN RAD51 RAD51B RAD51C RAD51D RAD54L RET STK11 TP53
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Tempo estimado de entrega do resultado:
20 dias
           

RET MLPA

This MLPA test identifies microdeletions or microduplications in RET gene (Ret Proto-oncogene) and allows the diagnosis of individuals with clinical suspicion of hereditary multiple end... Ver maisocrine neoplasia type 2 (MEN2), medullary thyroid carcinoma and pheochromocytoma. Variants detected only in RET gene sequencing test (point mutations) are more frequently detected in affected individuals.

Genes Analisados: RET
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Tempo estimado de entrega do resultado:
45 dias
           

SDHB MLPA

This MLPA test identifies microdeletions or microduplications in SDHB gene. The test is indicated for individuals with clinical suspicion of hereditary paraganglioma-pheochromocytoma (P... Ver maisGL/PHEO) syndrome and other diseases related to SDHB. Variants in SDHB gene are associated withPGL/PHEO and to the increased predisposition to non-syndromic paraganglioma, Cowden syndrome, Gastrointestinal stromal tumor and other related cancers.

Genes Analisados: SDHB
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Tempo estimado de entrega do resultado:
45 dias
           

STK11 MLPA

This MLPA test identifies microdeletions or microduplications in STK11 gene and allows the diagnosis of individuals with clinical suspicion of Peutz-Jeghers Syndrome (PJS). The Peutz-J... Ver maiseghers Syndrome (PJS) is characterized by gastrointestinal polyposis, cutaneous mucosal pigmentation and predisposition to cancer. Pathogenic variants in heterozygosis in STK11 gene cause the syndrome. Variants detected only in STK11 gene sequencing test (point mutations) are identified in 81% of the individuals affected by the syndrome. Microdeletions or microduplications (CNV) in the gene are responsible for 15% of the cases.

Genes Analisados: STK11
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Tempo estimado de entrega do resultado:
45 dias
           

TP53 MLPA

This MLPA test identifies microdeletions or microduplications in TP53 gene. The test is indicated for patients with suspected Li-Fraumeni syndrome or other forms of hereditary cancer.... Ver mais TP53 gene is a tumor suppressor gene which regulates the cell growth. Heterozygous pathogenic variants in TP53 gene cause Li-Fraumeni syndrome, with predisposition to a number of types of cancers, particularly adrenocortical carcinoma, breast cancer, central nervous system tumors, osteosarcomas and soft tissue sarcomas. Genetic variants detected only in TP53 gene sequencing test (point mutations) are identified in 90% of the cases. Microdeletions or microduplications (CNV) in the gene are responsible for around 1% of the cases.

Genes Analisados: TP53
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Tempo estimado de entrega do resultado:
45 dias
           

WT1 MLPA

This MLPA test identifies microdeletions or microduplications in WT1 gene and allows the diagnosis of individuals with clinical suspicion of Wilms tumor and related diseases, resulting... Ver mais from variations in the number of copies (CNV) involving this gene. Heterozygous pathogenic variants in WT1 gene occur with an increase risk for Wilms tumor and may further occur with Denys-Drash, Frasier, Meacham syndromes and nephrotic syndrome type 4.

Genes Analisados: WT1
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Tempo estimado de entrega do resultado:
45 dias
           

Wolf-Hirschhorn Syndrome (4p16 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 4p16 and allows the diagnosis of individuals with clinical suspicion of Wolf-Hirschhorn syndrome. The Wolf-Hirsc... Ver maishhorn syndrome is characterized by growth and developmental delay, intellectual disability, seizures and typical facial appearance. It’s caused by the terminal deletion of the short arm of chromosome 4, in region p.16. The deletion size ranges between the affected individuals, being that larger deletions trend to result in intellectual impairment and physical anomalies more severe than that in minor deletions. The typical signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes.

Genes Analisados: MSX1
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Tempo estimado de entrega do resultado:
75 dias
           

Williams Syndrome (7q11.23 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 7p11.23 and allows the diagnosis of individuals with clinical suspicion of Williams syndrome. The Williams syndr... Ver maisome is characterized by intellectual disability, characteristic personality, cardiovascular problems, among others. It’s caused by the microdeletion of the long arm of chromosome 7, in region q11.23. The deleted region includes 26 to 28 genes, and the loss of several of these genes contributes to the characteristics of such disease. CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes are among the genes which are normally deleted in individuals with Williams syndrome.

Genes Analisados: ELN
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Tempo estimado de entrega do resultado:
75 dias
           

WAGR Syndrome (11p13 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 11p13 and allows the diagnosis of individuals with clinical suspicion of WAGR syndrome. The WAGR syndrome is par... Ver maisticularly characterized by increased risk of developing Wilms tumor, aniridia (absence of iris), genitourinary anomalies and intellectual disability. The WAGR syndrome is caused by a deletion in the short arm of chromosome 11 in region p13. The deletion size ranges between the affected individuals and influences the signs an symptoms of WAGR syndrome, which are related to the lost genes. The most commonly deleted genes are PAX6, responsible for the ocular characteristics of the syndrome and WT1, responsible for Wilms tumor.

Genes Analisados: PAX6 WT1
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Tempo estimado de entrega do resultado:
75 dias
           

Sotos Syndrome (5q35 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 5q35 and allows the diagnosis of individuals with clinical suspicion of Sotos syndrome. The Sotos syndrome is mo... Ver maisre frequently caused by point mutations in NSD1 gene, located in the long arm of chromosome 5, in region q35, however, in part of the patients it results from the microdeletion of 1.9 Mb, in 5q35 region, comprising NSD1 gene, particularly identified in patients of Japanese descent.

Genes Analisados: NSD1
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Tempo estimado de entrega do resultado:
75 dias
           

Smith-Magenis Syndrome (17p11 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 17p11 and allows the diagnosis of individuals with clinical suspicion of Smith-Magenis syndrome. The Smith-Magen... Ver maisis syndrome is characterized by intellectual disability, distinct facial characteristics, sleep disorders and behavioral problems, among others. Usually, the Smith-Magenis syndrome results from the deletion of a small part of the short arm of chromosome 17 in position p11.2 which comprises multiple genes, including RAI1. The deleted segment generally (~70% of the cases) includes 3.7 megabases (Mb). Occasionally, the deletion is larger or smaller.

Genes Analisados: RAI1
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Tempo estimado de entrega do resultado:
75 dias
           

Skeletal Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais a number of skeletal system diseases, including Imperfect Osteogenesis, Achondroplasia, Acrodysostosis, Blomstrand Syndrome, Caffey Syndrome, Desbuquois Syndrome, Klippel-Feil Syndrome, Meier-Gorlin Syndrome, Osteopetrosis and Stickler Syndrome, among others.

Genes Analisados: ABL1 ACAN ACP5 ACVR1 ADAMTS10 ADAMTS17 ADAMTSL2 AFF4 AGA AGPS AIFM1 ALPL... Ver mais ALX1 ALX3 ALX4 AMER1 ANKH ANO5 ARCN1 ARSB ARSL ASCC1 ASPM ATP6V0A2 ATR ATRIP B3GALT6 B3GAT3 B4GALT7 BGN BHLHA9 BMP1 BMP2 BMPER BMPR1B BPNT2 C2CD3 CA2 CANT1 CASR CCDC134 CCDC8 CCN6 CDC45 CDC6 CDK5RAP2 CDKN1C CDT1 CENPJ CEP120 CEP135 CEP152 CEP63 CFAP410 CHST11 CHST14 CHST3 CHSY1 CHUK CILK1 CLCN5 CLCN7 COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL27A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP CREB3L1 CRIPT CRTAP CSF1R CSGALNACT1 CSPP1 CTNS CTSA CTSK CUL7 CWC27 CYP26B1 CYP27B1 CYP2R1 DDR2 DDRGK1 DHCR24 DHODH DIP2C DLL1 DLL3 DLX3 DLX5 DMP1 DNA2 DNMT3A DONSON DSE DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EDNRA EFNB1 EFTUD2 EHHADH EIF2AK3 ENPP1 ESCO2 EVC EVC2 EXOC6B EXOSC2 EXT1 EXT2 EXTL3 FAH FAM111A FAM20B FAM20C FAM98C FAR1 FAT4 FBLN1 FBN1 FERMT3 FGF16 FGF23 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FKBP10 FKBP14 FLNA FLNB FN1 FNDC3B FTO FUCA1 FZD2 GALNS GALNT3 GDF3 GDF5 GDF6 GHR GHRHR GHSR GJA1 GLB1 GLI1 GLI3 GMNN GNAS GNE GNPAT GNPTAB GNPTG GNS GORAB GPC6 GPX4 GSC GUSB GZF1 HDAC4 HDAC6 HES7 HGSNAT HNF4A HNRNPA1 HNRNPA2B1 HOXA11 HOXA13 HOXD13 HPGD HSPG2 HYAL1 IARS2 IDS IDUA IFIH1 IFITM5 IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IGF1 IGF2 IHH INPPL1 INTU IQCE JAG1 KAT6B KCNT2 KDELR2 KIAA0586 KIAA0753 KIF22 KL KMT2A KYNU LARP7 LBR LEMD3 LFNG LIFR LIG4 LMNA LMX1B LONP1 LOXL3 LRP4 LRP5 LRRK1 LTBP2 LTBP3 MAFB MAN2B1 MANBA MAP3K20 MAP3K7 MATN3 MBTPS1 MBTPS2 MCM3 MCM5 MCM7 MCPH1 MECOM MEOX1 MESD MESP2 MGP MMP13 MMP14 MMP2 MMP9 MNX1 MSX2 MYH3 MYO18B MYT1 NAGLU NANS NBAS NEK1 NEU1 NIN NKX3-2 NOG NOTCH2 NPPC NPR2 NPR3 NSDHL NSMCE2 NT5E NTRK1 NUDT6 NXN OBSL1 OCRL ORC1 ORC4 ORC6 OSTM1 P3H1 P4HB PAM16 PAPSS2 PCGF2 PCNT PCYT1A PDE4D PEX5 PEX7 PGM3 PHEX PHLDB1 PIK3C2A PISD PKDCC PLEKHM1 PLK4 PLOD1 PLOD2 PLS3 POC1A POLR1A POP1 POR PORCN PPIB PPP3CA PRG4 PRKAR1A PTDSS1 PTH1R PTHLH PTPN11 PYCR1 RAB33B RBBP8 RECQL4 RIGI RIN1 RIPPLY2 RMRP ROR2 RSPO2 RSPRY1 RTTN RUNX2 SBDS SC5D SEC23A SEC24D SERPINF1 SERPINH1 SETBP1 SF3B4 SFRP4 SGMS2 SGSH SH3PXD2B SHOX SIK3 SLC10A7 SLC17A5 SLC26A2 SLC29A3 SLC2A2 SLC34A1 SLC34A3 SLC35D1 SLC39A13 SLCO2A1 SLCO5A1 SMAD4 SMARCAL1 SNRPB SNX10 SOST SOX9 SP7 SPARC SQSTM1 SRCAP SUCO SULF1 SUMF1 TAB2 TAPT1 TBCE TBX15 TBX3 TBX4 TBX5 TBX6 TBXAS1 TCIRG1 TCTN3 TENT5A TGDS TGFB1 TMCO1 TMEM165 TMEM256 TMEM38B TNFRSF11A TNFRSF11B TNFSF11 TONSL TRAF3IP1 TRAIP TRAPPC2 TREM2 TRIM37 TRIP11 TRIP4 TRMT10A TRPS1 TRPV4 TTC21B TUBGCP4 TUBGCP6 TYROBP UBE3B UNC45A VAC14 VCP VDR VPS33A WDR19 WDR35 WDR4 WNT1 WNT10B WNT3 WNT3A WNT5A WNT7A XRCC4 XYLT2 ZBTB16 ZMPSTE24 ZNF141 ZNF687 ZSWIM6
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Tempo estimado de entrega do resultado:
28 dias
           

Saethre-Chotzen Syndrome (7q21 region MLPA or TWIST1 MLPA)

This MLPA test identifies microdeletions or microduplications in region 7p21 and allows the diagnosis of individuals with clinical suspicion of Saethre-Chotzen syndrome. The Saethre-Ch... Ver maisotzen syndrome is characterized by the early fusion of cranial sutures (craniosynostosis) and other characteristic physical signs. Usually, the Saethre-Chotzen syndrome is caused by point mutations in TWIST1 gene only detectable in the sequencing test. However, in some cases, it can be caused by a microdeletion in the short arm of chromosome 7, in region p21 where TWIST1 gene is located.

Genes Analisados: TWIST1
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Tempo estimado de entrega do resultado:
75 dias
           

Russell-Silver Syndrome (11p15 region methylation)

The methylation study of region 11p15 allows the diagnosis of individuals with clinical suspicion of Russel-Silver Syndrome (RSS). The RSS is a genetic disease of intrauterine and pos... Ver maist-natal growth restriction, resulting from changes to the regulation of genes that control growth. This test detects the main known cause of RSS: methylation changes to the short arm of chromosome 11 (in 11p15), region which includes H19 and IGF2 genes, this being the cause of 35-50% of the cases. The maternal uniparental disomy of chromosome 7, not investigated in this test, is responsible for other 7-10% of the RSS cases. The disease cause remains unknown in up to 40% of the patients.

Genes Analisados: IGF2
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Tempo estimado de entrega do resultado:
45 dias
           

Rubinstein-Taybi Syndrome (16p13 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 16p13 and allows the diagnosis of individuals with clinical suspicion of Rubinstein-Taybi syndrome (RTS). The RT... Ver maisS is characterized by post-natal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and great toes, developmental delay, among others. The RTS results more frequently from mutations in gen CREBBP, however, in some of the individuals it may be caused by a microdeletion in the short arm of chromosome 16, in region p13.3. A number of genes, including CREBBP gene, are absent as a result of such deletion.

Genes Analisados: CREBBP
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Tempo estimado de entrega do resultado:
75 dias
           

Phelan-McDermid Syndrome (22q13 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 22q13 and allows the diagnosis of individuals with clinical suspicion Phelan-McDermid syndrome. The Phelan-McDer... Ver maismid syndrome is characterized by developmental delay, hypotonia, intellectual disability, among others. The syndrome is caused by a terminal deletion of the long arm of chromosome 22 in region q13.3. The signs and symptoms of the syndrome are probably related to the loss of multiple genes in this region. The deletion size ranges between the affected individuals. The deletion of SHANK3 gene is most likely the cause of the main neurological characteristics associated with the syndrome. The deletion of other genes may cause more complex phenotypes in patients holding larger deletions.

Genes Analisados: SHANK3
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Tempo estimado de entrega do resultado:
75 dias
           

Noonan Syndrome and Rasopathies Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais different rasopathies, including Noonan syndrome, Cardio-Facio-Cutaneous syndrome and Costello syndrome.

Genes Analisados: A2ML1 ACTB ACTG1 BRAF CBL HRAS KAT6B KRAS LZTR1 MAP2K1 MAP2K2 MAPK1... Ver mais MRAS NF1 NRAS NSUN2 PPP1CB PTPN11 RAF1 RASA1 RASA2 RIT1 RRAS RRAS2 SHOC2 SOS1 SOS2 SPRED1 SPRED2 YWHAZ
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Tempo estimado de entrega do resultado:
28 dias
           

Miller-Dieker Syndrome (17p13 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 17p13 and allows the diagnosis of individuals with clinical suspicion Miller-Dieker syndrome. The Miller-Dieker... Ver mais syndrome is characterized by an abnormal brain development standard known as lissencephaly, developmental delay, seizures, among other symptoms. The syndrome is caused by the loss of the distal region of the short arm of chromosome 17, in region 7p13. The size of the deletion ranges between the affected individuals. The signs and symptoms of the Miller-Dieker syndrome are related to the loss of multiple genes in this region, particularly PAFAH1B1 and YWHAE genes.

Genes Analisados: PAFAH1B1
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Tempo estimado de entrega do resultado:
75 dias
           

Marfan Syndrome

This test performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of copies (CNV) through next generation sequencing (NGS) of FBN1 gene. The... Ver mais test allows the diagnosis of patients with suspected Marfan syndrome. Marfan syndrome is a connective tissue disease which causes eye, cardiovascular and skeletal changens. The gene which causes the syndrome is FBN1. Variants detected only in FBN1 gene sequencing test (point mutations) are identified in 90-93% of the affected individuals. Microdeletions and microduplications partially of fully comprising the gene cause the rest of the disease cases.

Genes Analisados: FBN1
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Tempo estimado de entrega do resultado:
28 dias
           

Langer-Giedion Syndrome (8q24 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 8q24 and allows the diagnosis of individuals with clinical suspicion of langer-Giedion syndrome, also known as tr... Ver maisichorhinophalangeal syndrome type 2 (STRF II). STRF II is a rare genetic syndrome associated to distinct facial characteristics and bone abnormalities. It is caused by deletion in the long arm of chromosome 8 (8q24). The signs and symptoms of STRF II are related to the loss of multiple genes in chromosome 8, particularly TRPS1, EXT1 and RAD21 genes.

Genes Analisados: EXT1 RAD21 TRPS1
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Tempo estimado de entrega do resultado:
75 dias
           

Ehlers-Danlos and Cutis Laxa Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais to different forms of Ehlers-Danlos and cutis laxa syndromes.

Genes Analisados: ADAMTS2 AEBP1 ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3 B4GALT7 C1R C1S... Ver mais CBS CHST14 CHST3 COL11A1 COL12A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A2 COL6A3 CRTAP DSE EFEMP2 ELN FBLN5 FBN1 FBN2 FKBP14 FLNA FLNB GGCX GORAB GZF1 HRAS KIF22 LOX LTBP4 MOCS1 P3H1 PIK3R1 PLOD1 PLP1 PPP1CB PRDM5 PYCR1 RIN2 SLC2A10 SLC39A13 SMAD2 SMAD3 SPARC TGFB2 TGFB3 TGFBR1 TGFBR2 TNFRSF1A TNXB ZNF469
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Tempo estimado de entrega do resultado:
28 dias
           

Day One – Genomic Newborn Screening

This test evaluates more than 500 genes that can cause rare, but treatable early-onset diseases. This panel includes analysis of rare diseases from various classes such as Inborn Errors... Ver mais of Metabolism, Neurological, Immunological, Hematological, Endocrine, Kidney, Hepatic, Gastrointestinal and Skeletal Diseases. The panel is recommended for preventive screening of rare diseases in asymptomatic babies.

Genes Analisados: AAAS ABCB11 ABCB4 ABCC6 ABCC8 ABCD1 ABCD3 ABCD4 ABCG5 ABCG8 ACAD8 ACADM... Ver mais ACADVL ACAT1 ACOX2 ACSF3 ADA ADAMTS13 AGL AGRN AHCY AICDA AK2 AKR1D1 ALDH7A1 ALDOA ALDOB ALG14 ALG2 ALPL AMACR AMN AMT APOA5 APOB APOC2 AQP2 ARG1 ARPC1B ARSA ARSB ASCC3 ASL ASS1 ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATP8B1 AVPR2 B2M BAAT BCKDHA BCKDHB BCKDK BCL10 BLNK BSND BTD BTK C3 CA5A CACNA1S CAD CARD11 CARMIL2 CASP8 CASR CBLIF CBS CD247 CD27 CD320 CD3D CD3E CD3G CD40 CD40LG CD70 CD79A CD79B CDCA8 CFP CFTR CHAT CHD8 CHRNA1 CHRNB1 CHRND CHRNE CIITA CLCN7 CLCNKA CLCNKB CLDN16 CLDN19 CLPB COL13A1 COL1A1 COL1A2 COLQ COQ2 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 CORO1A CPOX CPS1 CPT1A CPT2 CSF3R CTLA4 CTNS CTPS1 CUBN CXCR2 CXCR4 CYBA CYBB CYBC1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP27A1 CYP27B1 CYP2R1 CYP7B1 DBT DCLRE1C DDC DGAT1 DHFR DLD DMD DMP1 DNAJC12 DNAJC21 DOCK2 DOCK8 DOK7 DPAGT1 DUOX2 DUOXA2 EFL1 EIF6 ELANE ENPP1 EPO ERCC6L2 ETFA ETFB ETFDH F13A1 F13B F2 F8 F9 FAAP24 FAH FAS FASLG FBP1 FERMT3 FGA FGF23 FGFR3 FLAD1 FOLR1 FOXA2 FOXE1 FOXN1 FOXP3 G6PC1 G6PC3 GAA GALE GALK1 GALM GALNS GALT GAMT GATA1 GATA2 GATM GBA1 GBE1 GCDH GCH1 GCK GFI1 GFPT1 GGCX GH1 GHR GHRHR GJB2 GJB6 GLA GLDC GLI2 GLIS3 GLRA1 GLRB GLUD1 GOT2 GPIHBP1 GUSB GYS1 GYS2 HADH HADHA HADHB HAVCR2 HAX1 HBB HCFC1 HEATR3 HK1 HLCS HMGCL HMGCS2 HPD HSD3B2 HSD3B7 HYOU1 IDS IDUA IFNG IFNGR1 IFNGR2 IGHM IGLL1 IGSF1 IKBKB IL12B IL12RB1 IL12RB2 IL18BP IL23R IL2RA IL2RB IL2RG IL7R IMPDH2 INO80 INS INSR IRAK1 IRAK4 IRF4 IRF8 IRS4 ITGB2 ITK ITPKB IVD IYD JAGN1 JAK1 JAK3 KCNJ1 KCNJ11 KCNQ2 KCNT1 LAMA5 LAMB2 LAT LCK LCP2 LCT LDLR LDLRAP1 LEP LHX3 LHX4 LIPA LMBRD1 LMF1 LPL LRP4 LYN LYST MAGED2 MAGT1 MALT1 MAML2 MAMLD1 MAN2B1 MAP3K14 MC2R MCEE MMAA MMAB MMACHC MMADHC MMUT MOCS1 MPI MPL MRAP MTHFD1 MTHFR MTM1 MTR MTRR MTTP MUSK MYD88 MYH9 MYO5B MYO9A MYSM1 NAGLU NAGS NCF2 NCF4 NEUROG3 NFKB1 NKX2-1 NKX2-5 NNT NR0B1 NR1H4 NR5A1 NTN1 ORAI1 OTC OTX2 OXCT1 PAH PAX1 PAX8 PCBD1 PCCA PCCB PCK1 PCSK1 PCSK9 PDSS1 PDSS2 PDX1 PDXK PGM1 PGM3 PHEX PHGDH PHKA2 PHKB PHKG2 PIK3CD PIK3R1 PKLR PLAGL1 PLEC PLPBP PNP PNPO POLD1 POLD2 POMC POR POU1F1 POU2AF1 PREPL PRF1 PRKCD PROP1 PSAT1 PSPH PTF1A PTPRC PTS PURA PYGL QDPR RAB27A RAC2 RAG1 RAG2 RAPSN RASGRP1 RB1 RC3H1 RFX5 RFXANK RFXAP RHOG ROBO1 RORC RPH3A RPL10 RPL10A RPL11 RPL15 RPL18 RPL19 RPL26 RPL27 RPL3 RPL31 RPL34 RPL35 RPL35A RPL5 RPL8 RPLP0 RPS10 RPS11 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RYR1 SASH3 SBDS SCN4A SCNN1A SCNN1B SCNN1G SEMA7A SH2D1A SH3KBP1 SI SLC12A1 SLC16A1 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A32 SLC25A36 SLC26A3 SLC26A4 SLC26A7 SLC2A1 SLC2A2 SLC31A1 SLC34A3 SLC35A2 SLC37A4 SLC39A4 SLC39A7 SLC39A8 SLC46A1 SLC51A SLC52A2 SLC52A3 SLC5A1 SLC5A5 SLC5A6 SLC5A7 SLC6A5 SLC6A6 SLC7A7 SLC7A9 SMN1 SMPD1 SNAP25 SORD SOX3 SP110 SPI1 SPPL2A SPR SRP54 SRP72 STAR STAT1 STX11 STXBP2 SYT2 TANGO2 TAP1 TAP2 TAPBP TAT TBL1X TBX19 TBX21 TCF3 TCN2 TEFM TFRC TG TH THAP11 THRA TIRAP TJP2 TK2 TOP2B TOR1AIP1 TPK1 TPO TPP1 TRH TRHR TRPM6 TSC1 TSC2 TSHB TSHR TSR2 TTPA TUBB1 TYK2 UCP2 UGT1A1 UNC13A UNC13D UNG UROS USP53 VAMP1 VDR VKORC1 VPS45 WAS WIPF1 XIAP ZAP70 ZFP57 ZFYVE19 ZNF143 ZNF808 ZNRF3
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Tempo estimado de entrega do resultado:
21 dias
           

Cystic Fibrosis

This test conducts the sequencing and evaluation of the number of copies (CNV) of CFTR gene through the NGS technique. The test allows the diagnosis of patients with suspected cystic fi... Ver maisbrosis. The cystic fibrosis (CF) is a disease characterized by progressive pulmonary change, exocrine pancreatic dysfunction and high electrolyte concentration in sweat. Pathogenic variants in both copies of CFTR gene cause the disease. More than 1,000 variants in CFTR gene which cause the disease have already been identified, deltaF508 being the most common mutation, which leads to the deletion of an amino acid in position 508 of the CFTR protein. Variants detected only in CFTR gene sequencing test (point mutations) are identified in 98% of the individuals affected by the disease. Microdeletions and microduplications in CFTR comprising one or more exons of the gene cause the rest of the cases.

Genes Analisados: CFTR
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Tempo estimado de entrega do resultado:
28 dias
           

Cri du Chat Syndrome (5p15 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 5p15 and allows the diagnosis of patients with clinical suspicion of Cri-du-Chat syndrome. The Cri du Chat syndr... Ver maisome is a microdeletion syndrome characterized by intellectual disability, developmental delay, typical facial changes, and presence of a characteristic crying in the early childhood which reminds a cat meow. The disease cause is the deletion of the short arm of chromosome 5 in region p15, detectable in the MLPA test.

Genes Analisados: CTNND2
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Tempo estimado de entrega do resultado:
75 dias
           

Craniosynostosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 4 genes related... Ver mais to syndromic craniosynostosis, including Apert, Jackson-Weiss, Pfeiffer, Saethre-Chotzen and Crouzon Syndromes.

Genes Analisados: ADAMTSL4 ALX4 ASXL1 B3GAT3 CDC45 CDT1 COLEC11 CYP26B1 EFNB1 ERF ESCO2 FBN1... Ver mais FGFR1 FGFR2 FGFR3 FREM1 GINS2 GLI3 GPC3 IFT122 IFT140 IFT43 IGF1R IHH IL11RA KAT6A KAT6B MASP1 MEGF8 MSX2 NFIA ORC1 ORC4 ORC6 P4HB PAN2 POLR2A POR PPP3CA RAB23 RECQL4 RSPRY1 RUNX2 SCARF2 SEC24D SIM2 SIX1 SIX2 SKI SLC25A24 SMAD2 SMAD3 SMAD6 SOX6 SPECC1L STAT3 TCF12 TCOF1 TGFB2 TGFB3 TGFBR1 TGFBR2 TMCO1 TWIST1 WDR19 WDR35 ZIC1
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Tempo estimado de entrega do resultado:
28 dias
           

Clinically Recognized Syndromes Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais the main genetic syndromes which phenotypes can be clinically recognizable. This test provides the clinical geneticist with a tool for the rapid molecular confirmation of common clinical diagnoses. The panel includes genes related to Adams-Oliver, Albinism, X-linked alpha-thalassemia/DI, Aniridia, Distal Arthrogryposis, Bardet-Biedl, CHARGE, Cockayne, Coffin-siris, Progeria and Progeroid Syndromes, Pseudohypoparathyroidism (Albright hereditary osteodystrophy), 3M Syndrome, Acrocallosal Syndrome, Aarskog Syndrome, Alagille Syndrome, Alstrom Syndrome, Bannayan-Riley-Ruvalcaba-Smith Syndrome, Baraitser-Winter Syndrome, Blepharophimosis Syndrome, Ptosis and Inverse Epicanthus (BPES), Bloom Syndrome, Bohring-Opitz Syndrome, Cantu Syndrome, Cohen Syndrome, Cornelia de Lange Syndrome, EEC Syndrome, Floating-Harbor Syndrome, Freeman-Sheldon Syndrome, Gorlin Syndrome, Holt Oram Syndrome, Johanson-Blizzard Syndrome, Kabuki Syndrome, Kleefstra Syndrome, Loyes-Dietz Syndrome, Lujan-Fryns Syndrome, Marfan Syndrome and other conditions associated to FBN1 gene, Marshall-Smith Syndrome, Miller Syndrome, Mowat-Wilson Syndrome, Myhre Syndrome, Nager Syndrome, Nicolaides-Baraitser Syndrome, Noonan Syndrome and other rasopathies, Opitz C Syndrome (Optiz Trigonocephaly), Opitz G/BBB Syndrome, Pitt-Hopkins Syndrome, Ritscher-Schinzel Syndrome (3C), Robinow Syndrome, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS), Schinzel-Giedion Syndrome, Schwarz-Jampel Syndrome, Seckel Syndrome, Sheldon-Hall Syndrome, Shprintzen-Goldberg Syndrome, Simpson-Golabi Syndrome, Smith-Lemli-Opitz Syndrome, Sotos Syndrome, Townes-Brockes Syndrome, Treacher-Collins Syndrome, Nail-patella Syndrome, Van der Woude Syndrome, Waardenburg Syndrome, Weaver Syndrome, Wiedemann-Steiner Syndrome, Multiple pterygium syndrome, Duane-radial ray syndrome (Okihiro), FG Syndrome (Opitz-Kaveggia), KBG Syndrome, TAR Syndrome and Trichorhinophalangeal Syndrome.

Genes Analisados: A2ML1 ABCC9 ACTB ACTG1 ALMS1 ANKRD11 AP3B1 AP3D1 ARHGAP31 ARID1A ARID1B ARID2... Ver mais ARL6 ARL6IP1 ASXL1 ATR ATRX BANF1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BLM BLOC1S3 BLOC1S6 BRAF CBL CCDC65 CCDC8 CCDC88A CCDC88C CDC6 CDT1 CENPJ CEP152 CEP290 CEP63 CHD7 CHRNG CNTNAP2 CREBBP CUL7 DHCR7 DHODH DLL4 DOCK6 DTNBP1 DVL1 DVL3 EDN3 EDNRB EHMT1 ELP4 EOGT EP300 EPG5 ERCC6 ERCC6L2 ERCC8 EYA1 EZH2 FBN1 FBN2 FGD1 FOXL2 GATA3 GCM2 GLE1 GNAS GPC3 GPR143 GRHL3 HDAC8 HNF1A HNF1B HPS1 HPS3 HPS4 HPS5 HPS6 HRAS HSPG2 IFT27 IRF6 JAG1 KAT6B KDM6A KIF7 KIFBP KIT KITLG KMT2A KMT2C KMT2D KRAS KRIT1 LMNA LMX1B LRMDA LYST LZTFL1 LZTR1 MAP2K1 MAP2K2 MATR3 MED12 MID1 MITF MKKS MKS1 MLPH MYBPC1 MYH3 MYH8 MYO5A NF1 NFIX NIN NIPBL NOTCH1 NOTCH2 NRAS NRXN1 NSD1 NSMCE2 OBSL1 OCA2 OFD1 ORC1 ORC4 ORC6 PAX3 PAX6 PHF6 PIEZO2 POLR1B POLR1C POLR1D PPP1CB PSMC3IP PTCH1 PTCH2 PTEN PTH PTH1R PTHLH PTPN11 RAB27A RAD21 RAF1 RAI1 RASA1 RASA2 RBBP8 RBM8A RBPJ RECQL4 RIT1 RNF113A RNF125 RNF168 RNF170 ROR2 RPS6KA3 RRAS SALL1 SALL4 SDCCAG8 SERPINF1 SETBP1 SF3B4 SHOC2 SIX5 SKI SKIC2 SLC24A5 SLC25A24 SLC45A2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SNAI2 SOS1 SOS2 SOX10 SPECC1L SPRED1 SRCAP STX16 SUFU TBCE TBX5 TCF4 TCOF1 TFAP2A TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM67 TNNI2 TNNT3 TP63 TPM2 TRAIP TRIM32 TRIT1 TRPS1 TTC8 TYR TYROBP TYRP1 UBR1 VIPAS39 VKORC1 VPS13B VPS33B WASHC5 WDPCP WNT5A WRN ZEB2 ZMPSTE24 ZNF141 ZNF148
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Tempo estimado de entrega do resultado:
28 dias
           

Carrier Screening for Recessive Disorders

The Recessive Disease Mutation Carrier Screening identifies previously described and/or admittedly pathogenic mutations in 212 genes related to recessive autosomal diseases. The test mu... Ver maisst be preferably used by a clinical geneticist as a tool for the genetic counseling of couples at increased risk for this group of diseases. All the human genes are presented in pairs, because we inherit a maternal and a paternal copy. A part of the genetic diseases presents recessive autosomal inheritance, i.e., for the disease to manifest it"s necessary that the two gene copies (maternal and paternal) are changed. People who have only one copy of a mutated gene (maternal or paternal copy) will be carriers of the mutation, but will not manifest the disease. Genetic disease with recessive autosomal inheritance are more frequently observed in children of consanguineous couples (with a degree of relatedness), of certain ethnic groups with increased risk for specific genetic conditions (such as, for example, the Ashkenazi Jews), or people with family history of recessive autosomal genetic disease such as cystic fibrosis and sickle-cell anemia. This test allows the evaluation of any variant present in the coding region (exons and flanking introns) of the panel.

Genes Analisados: ABCA3 ABCC8 ABCD1 ACADM ACADVL ACAT1 ADA ADAMTS2 AGA AGL AGXT AHI1... Ver mais AIRE ALDH3A2 ALDOB ALG6 ALMS1 ALPL AMT ANO10 AR ARG1 ARSA ARX ASL ASPA ASS1 ATM ATP7B BBS1 BBS10 BBS12 BBS2 BCKDHA BCKDHB BCS1L BLM BTD CAPN3 CBS CC2D2A CCDC88C CEP290 CFTR CHRNE CLCN1 CLN3 CLN5 CLN6 CLN8 CLRN1 CNGB3 COL4A3 COL4A4 COL7A1 CPS1 CPT1A CPT2 CTNS CTSK CYP11B1 CYP27A1 CYP27B1 DBT DHCR7 DHDDS DLD DMD DYNC2H1 DYSF ELP1 ERCC2 ERCC6 ERCC8 EVC EVC2 F11 FAH FANCA FANCC FKRP FKTN FMO3 G6PC1 GAA GALC GALK1 GALT GBA1 GBE1 GCDH GJB2 GLA GLB1 GLDC GNE GNPTAB GNPTG GRHPR GRIP1 HADHA HBB HEXA HEXB HGSNAT HLCS HMGCL HOGA1 HPS1 HPS3 HSD17B4 HYLS1 IDUA IVD KCNJ11 L1CAM LAMA2 LAMA3 LAMB3 LAMC2 LIPA LRP2 LRPPRC MAN2B1 MCCC2 MCOLN1 MCPH1 MESP2 MID1 MKS1 MLC1 MMAA MMAB MMACHC MMUT MPI MPL MTTP MVK MYO7A NAGA NAGLU NBN NEB NPC1 NPC2 NPHS1 NPHS2 NR0B1 OCA2 OPA3 OTC PAH PC PCCA PCCB PCDH15 PEX1 PEX10 PEX12 PEX2 PEX6 PEX7 PHGDH PKHD1 PLP1 PMM2 POLG POMGNT1 PPT1 PRF1 PROP1 PTS RARS2 RNASEH2B RS1 RTEL1 SACS SCO2 SGCA SGCB SGCD SGCG SGSH SLC12A6 SLC17A5 SLC19A3 SLC22A5 SLC26A2 SLC26A4 SLC35A3 SLC37A4 SLC6A8 SMPD1 STAR SUMF1 TAT TCIRG1 TF TGM1 TH TMEM216 TNXB TPP1 TTPA TYR USH1C USH2A VPS13B XPA XPC ZFYVE26
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Tempo estimado de entrega do resultado:
45 dias
           

CHARGE Syndrome

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of CHD7 gene. The t... Ver maisest allows the molecular diagnosis of patients with suspected CHARGE syndrome. Variants detected only in CHD7 gene sequencing test (point mutations) are identified in 90% of the affected individuals. Microdeletions or microduplications in the gene are rare.

Genes Analisados: CHD7
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Tempo estimado de entrega do resultado:
28 dias
           

Beckwith-Wiedemann Syndrome (11p15 region methylation)

The methylation study of region 11p15 allows the diagnosis of individuals with clinical suspicion of Beckwith-Wiedemann syndrome, being the methylation changes the main mechanism associ... Ver maisated to this syndrome. Around 50% of the cases result from methylation changes in the short arm of chromosome 11 (region 11p15), which includes CDKN1C, H19, IGF2, and KCNQ1OT1 genes. The paternal uniparental disomy of chromosome 11 is responsible for 10% of the disease cases. In case of negative result in the methylation test, the sequencing of CDKN1C gene is recommended, considering that approximately 5% of the cases of Beckwith-Wiedemann syndrome without family history, are caused by point mutations in this gene.

Genes Analisados: CDKN1C
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Tempo estimado de entrega do resultado:
45 dias
           

Angelman and Prader-Willi Syndrome (methylation)

The methylation study of region 15q11.2 is recommended for individuals with clinical suspicion of Prader-Willi (PWS) and Angelman (AS) syndromes. The Prader-Willi syndrome (PWS) is cha... Ver maisracterized by severe hypotonia during the first years of a child"s life, difficult feeding and developmental delay. Later, these individuals in general develop compulsive behavior concerning food. The Angelman syndrome (AS) is characterized by neuropsychomotor development delay, with significant impact to the language, intellectual disability, ataxia, seizures, stereotyped movements, among others. The two conditions are caused by changes to the long arm of chromosome 15 (in 15q11.2). Genes subject to a mechanism called genomic imprinting are located in this region. The methylation test is able to detect, respectively, 99% and 85%, of the Prader-Willy syndrome (PWS) and Angelman syndrome (AS) cases. Around 11% of the AS cases are caused by variants of UBE3A gene detected only by sequencing tests. For individuals with suspected Angelman syndrome, in case of negative result in the methylation test, the conduction of gene UBE3A sequencing is recommended.

Genes Analisados: UBE3A
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Tempo estimado de entrega do resultado:
30 dias
           

1p36 Deletion Syndrome (1p36 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 1p36 and allows the diagnosis of individuals with clinical suspicion of 1p36 deletion. The 1p36 monosomy is cons... Ver maisidered as being one of the most common chromosomal terminal deletions in the human species and may lead to developmental delay, intellectual disability, characteristic facial signs, among others.

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Tempo estimado de entrega do resultado:
75 dias