Especialidade:

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

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:
45 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

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

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: ABCB11 ABCB4 ABCC8 ABCD1 ABCD4 ABCG5 ABCG8 ACAD8 ACADM ACADVL ACAT1 ADA... Ver mais ADAMTS13 AGL AICDA AK2 AKR1D1 ALAD ALAS2 ALDH7A1 ALDOA ALDOB ALPL AMACR AMT APOA5 APOC2 AQP2 ARG1 ARSA ARSB ASL ASS1 ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATP8B1 AVPR2 BAAT BCKDHA BCKDHB BCKDK BCL10 BLNK BSND BTD BTK CA5A CAD CARD11 CASR CBS CD247 CD320 CD3D CD3E CD3G CD40 CD40LG CD79A CD79B CDCA8 CFTR CIITA CLCNKA CLCNKB CLDN16 CLDN19 CNNM2 COL1A1 COL1A2 CORO1A CPOX CPS1 CPT1A CPT2 CTNS CTPS1 CXCR2 CXCR4 CYBA CYBB CYBC1 CYP11B1 CYP11B2 CYP17A1 CYP27A1 CYP27B1 CYP2R1 CYP7A1 CYP7B1 DBT DCLRE1C DDC DGAT1 DHFR DLD DMD DNAJC12 DNAJC21 DOCK2 DUOX2 DUOXA2 EFL1 ELANE ETFA ETFB ETFDH ETHE1 F8 F9 FAH FBP1 FCHO1 FECH FGA FLAD1 FOLR1 FOXE1 FOXN1 FOXP3 G6PC1 G6PC3 G6PD GAA GALC GALE GALK1 GALM GALNS GALT GAMT GATA2 GATM GBA1 GBE1 GBP1 GCDH GCH1 GCK GCSH GFI1 GGCX GJB2 GJB6 GLA GLB1 GLDC GLIS3 GLRA1 GLRB GLUD1 GOT2 GPIHBP1 GUSB GYS1 GYS2 HADH HADHA HADHB HAX1 HBB HCFC1 HESX1 HLCS HMBS HMGCL HMGCS2 HPD HSD3B2 HSD3B7 HYOU1 IDS IDUA IFNGR1 IFNGR2 IGLL1 IGSF1 IKBKB IL12B IL12RB1 IL2RA IL2RG IL7R INS INSR IRF8 IRS4 IVD IYD JAGN1 JAK3 KCNJ1 KCNJ11 LAT LCK LCT LDHA LHX3 LHX4 LIPA LMBRD1 LMF1 LPL MAGT1 MALT1 MAN2B1 MAP3K14 MC2R MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MOCS1 MPI MPL MPO MRAP MTHFR MTR MTRR MTTP MYD88 MYH9 NAGLU NAGS NCF2 NCF4 NEUROG3 NHEJ1 NKX2-1 NKX2-5 NNT NPC1 NPC2 NR0B1 ORAI1 OTC OTX2 OXCT1 PAH PAX8 PC PCBD1 PCCA PCCB PCK1 PDXK PFKM PGAM2 PGM1 PHEX PHGDH PHKA1 PHKA2 PHKB PHKG2 PIK3R1 PLPBP PNP PNPO POU1F1 PPOX PRF1 PRKDC PROP1 PSAT1 PSPH PTPRC PTS PYGL PYGM QDPR RAC2 RAG1 RAG2 RAPSN RASGRP1 RB1 RFX5 RFXANK RFXAP RORC SBDS SCNN1A SCNN1B SCNN1G SGSH SH2D1A SI SLC12A1 SLC16A1 SLC19A1 SLC19A2 SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC26A3 SLC26A4 SLC26A7 SLC27A5 SLC2A1 SLC2A2 SLC35A2 SLC37A4 SLC39A4 SLC46A1 SLC52A2 SLC52A3 SLC5A1 SLC5A5 SLC5A6 SLC6A5 SLC6A6 SLC7A7 SLC7A9 SMN1 SMPD1 SORD SPR SRP54 STAR STAT1 STX11 STXBP2 TANGO2 TAP1 TAP2 TAPBP TAT TBL1X TCN2 TFRC TG TH THAP11 THRA TJP2 TK2 TPK1 TPO TPP1 TRH TRHR TRPM6 TSHB TSHR TTPA TUBB1 UGT1A1 UNC13D UNG UROD UROS USP53 VDR VKORC1 VPS45 WAS WIPF1 XIAP ZAP70 ZNF143
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Tempo estimado de entrega do resultado:
28 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:
45 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 ADAMTSL2 AGA AGPS ALPL ALX1 ALX3 ALX4 AMER1... Ver mais ANKH ANO5 ARCN1 ARSB ARSL ASCC1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 BGN BHLHA9 BMP1 BMP2 BMPER BMPR1B BPNT2 CA2 CANT1 CASR CCDC8 CCN6 CDC45 CDC6 CDKN1C CDT1 CEP120 CHST11 CHST14 CHST3 CHSY1 CILK1 CLCN5 CLCN7 COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CREB3L1 CRTAP CSGALNACT1 CTSA CTSK CUL7 CYP26B1 CYP27B1 CYP2R1 DDR2 DHCR24 DHODH DIP2C DLL3 DLX3 DLX5 DMP1 DSE DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EDNRA EFNB1 EFTUD2 EHHADH EIF2AK3 EIF4A3 ENPP1 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 FAM111A FAM20B FAM20C FAM98C FBLN1 FBN1 FERMT3 FGF16 FGF23 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FKBP10 FKBP14 FLNA FLNB FN1 FNDC3B FUCA1 FZD2 GALNS GDF3 GDF5 GDF6 GJA1 GLB1 GLI1 GLI3 GMNN GNAS GNPAT GNPTAB GNPTG GNS GORAB GPC6 GPX4 GUSB GZF1 HDAC4 HDAC6 HES7 HGSNAT HNF4A HNRNPA1 HNRNPA2B1 HOXA11 HOXA13 HOXD13 HPGD HSPG2 IDS IDUA IFIH1 IFITM5 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IHH INPPL1 INTU IQCE KAT6B KCNT2 KIAA0586 KIF22 KYNU LBR LEMD3 LFNG LIFR LMNA LMX1B LONP1 LRP4 LRP5 LTBP3 MAFB MAN2B1 MAP3K20 MAP3K7 MATN3 MBTPS1 MBTPS2 MCM3 MCM5 MCM7 MECOM MEOX1 MESP2 MMP13 MMP2 MMP9 MNX1 MSX2 MYH3 MYO18B MYT1 NAGLU NANS NEK1 NEU1 NIN NKX3-2 NOG NOTCH2 NPR2 NSDHL NT5E NUDT6 OBSL1 ORC1 ORC4 ORC6 OSTM1 P3H1 P4HB PAM16 PAPSS2 PCGF2 PCNT PCYT1A PDE4D PEX5 PEX7 PHEX PIK3C2A PLEKHM1 PLOD1 PLOD2 PLS3 POLR1A POP1 POR PORCN PPIB PPP3CA PRG4 PRKAR1A PTDSS1 PTH1R PTHLH PTPN11 PYCR1 RAB33B RBBP8 RECQL4 RIGI RIN1 RIPPLY2 RMRP ROR2 RSPO2 RSPRY1 RUNX2 SBDS SEC23A SEC24D SERPINF1 SERPINH1 SF3B4 SFRP4 SGSH SH3PXD2B SHOX SIK3 SLC10A7 SLC17A5 SLC26A2 SLC29A3 SLC34A1 SLC34A3 SLC35D1 SLC39A13 SLCO5A1 SMAD4 SMARCAL1 SNRPB SNX10 SOST SOX9 SP7 SPARC SQSTM1 SUCO SULF1 SUMF1 TBCE TBX15 TBX3 TBX4 TBX6 TBXAS1 TCIRG1 TENT5A TGDS TGFB1 TMCO1 TMEM256 TMEM38B TNFRSF11A TNFRSF11B TNFSF11 TONSL TRAPPC2 TREM2 TRIP11 TRIP4 TRPS1 TRPV4 TTC21B TYROBP UNC45A VCP VDR WDR19 WDR35 WNT1 WNT10B WNT3 WNT5A WNT7A XYLT1 XYLT2 ZBTB16 ZMPSTE24 ZNF141 ZNF687 ZSWIM6
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Tempo estimado de entrega do resultado:
45 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

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:
45 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 BRAF CBL HRAS KRAS LZTR1 MAP2K1 MAP2K2 MAPK1 MRAS NF1 NRAS... Ver mais PPP1CB PTPN11 RAF1 RASA1 RASA2 RIT1 RRAS RRAS2 SHOC2 SOS1 SOS2 SPRED1 SPRED2
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Tempo estimado de entrega do resultado:
45 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: NF1 NF2 SPRED1
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Tempo estimado de entrega do resultado:
45 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 ACAD9 AIFM1 ATP5F1A ATP5F1E ATPAF2 BCS1L BOLA3 C1QBP CARS2 CHCHD10 COA8... Ver mais COX10 COX14 COX15 COX20 COX6B1 CYC1 DARS2 DDC DGUOK DNA2 EARS2 ECHS1 ELAC2 FARS2 FASTKD2 FBXL4 FDX2 FDXR FOXRED1 GFER GFM1 GTPBP3 HADHA HADHB IBA57 ISCA1 ISCA2 ISCU LIAS LIPT2 LRPPRC LYRM4 LYRM7 MARS2 MGME1 MICOS13 MPC1 MPV17 MRPL3 MRPL44 MRPS16 MRPS2 MRPS22 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 MTO1 MTRFR NARS2 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL OPA1 PCK2 PET100 PNPLA8 PNPT1 POLG POLG2 PUS1 RMND1 RNASEH1 RRM2B SCO1 SDHA SDHAF1 SDHD SFXN4 SLC25A26 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SUOX SURF1 TACO1 TANGO2 TARS2 TIMMDC1 TK2 TMEM126B TMEM70 TRIT1 TRMT10C TRMT5 TSFM TTC19 TUFM TWNK TXN2 TYMP UQCC2 UQCC3 UQCRB UQCRC2 UQCRQ VARS2 WARS2 YARS2
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Tempo estimado de entrega do resultado:
45 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 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 ADAMTS2 ADAMTSL4 AEBP1 ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3 B4GALT7... Ver mais BGN CBS CHST14 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL9A1 COL9A2 EFEMP2 ELN FBLN5 FBN1 FBN2 FKBP14 FLNA FOXE3 GORAB GZF1 HRAS KIF22 LOX LTBP2 LTBP3 LTBP4 MFAP5 MYH11 MYLK PIK3R1 PLOD1 PPP1CB PRKG1 PYCR1 RIN2 ROBO4 SKI SLC2A10 SLC39A13 SMAD3 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB
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Tempo estimado de entrega do resultado:
45 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

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:
45 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.

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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 CHST14 COL12A1... Ver mais COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 EFEMP2 ELN FBLN5 FKBP14 FLNA GORAB GZF1 HRAS KIF22 LTBP4 PIK3R1 PLOD1 PPP1CB PYCR1 RIN2 SLC2A10 SLC39A13 TNXB
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Tempo estimado de entrega do resultado:
45 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:
30 dias

Day One – Genomic Newborn Screening

This test evaluates more than 340 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: ABCB11 ABCB4 ABCC8 ABCD1 ABCD4 ABCG5 ABCG8 ACAD8 ACADM ACADVL ACAT1 ADA... Ver mais ADAMTS13 AGL AICDA AK2 AKR1D1 ALDH7A1 ALDOA ALDOB ALPL AMACR APOA5 APOC2 AQP2 ARG1 ARSA ARSB ASL ASS1 ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATP8B1 AVPR2 BAAT BCKDHA BCKDHB BCKDK BCL10 BLNK BSND BTD BTK CAD CARD11 CASR CBS CD247 CD320 CD3D CD3E CD3G CD40 CD40LG CD79A CD79B CDCA8 CFTR CIITA CLCNKA CLCNKB CLDN16 CLDN19 COL1A1 COL1A2 CORO1A CPS1 CPT1A CPT2 CTNS CTPS1 CXCR2 CXCR4 CYBA CYBB CYBC1 CYP11B1 CYP11B2 CYP17A1 CYP27A1 CYP27B1 CYP2R1 CYP7A1 CYP7B1 DBT DCLRE1C DDC DGAT1 DHFR DLD DMD DNAJC12 DNAJC21 DOCK2 DUOX2 DUOXA2 EFL1 ELANE ETFA ETFB ETFDH ETHE1 F8 F9 FAH FBP1 FCHO1 FGA FLAD1 FOLR1 FOXE1 FOXN1 FOXP3 G6PC1 G6PC3 GAA GALE GALK1 GALM GALNS GALT GAMT GATA2 GATM GBA1 GBE1 GBP1 GCDH GCH1 GCK GFI1 GGCX GJB2 GJB6 GLIS3 GLRA1 GLRB GLUD1 GOT2 GPIHBP1 GUSB GYS1 GYS2 HADH HADHA HADHB HAX1 HBB HCFC1 HESX1 HLCS HMGCL HMGCS2 HPD HSD3B2 HSD3B7 HYOU1 IDS IDUA IFNGR1 IFNGR2 IGLL1 IGSF1 IKBKB IL12B IL12RB1 IL2RA IL2RG IL7R INS INSR IRF8 IRS4 IVD IYD JAGN1 JAK3 KCNJ1 KCNJ11 LAT LCK LCT LHX3 LHX4 LIPA LMBRD1 LMF1 LPL MAGT1 MALT1 MAN2B1 MAP3K14 MC2R MCEE MMAA MMAB MMACHC MMADHC MMUT MOCS1 MPI MPL MPO MRAP MTHFR MTR MTRR MTTP MYD88 MYH9 NAGS NCF2 NCF4 NEUROG3 NHEJ1 NKX2-1 NKX2-5 NNT NR0B1 ORAI1 OTC OTX2 OXCT1 PAH PAX8 PCBD1 PCCA PCCB PCK1 PDXK PGM1 PHEX PHGDH PHKA2 PHKB PHKG2 PIK3R1 PLPBP PNP PNPO POU1F1 PRF1 PRKDC PROP1 PSAT1 PSPH PTPRC PTS PYGL QDPR RAC2 RAG1 RAG2 RAPSN RASGRP1 RB1 RFX5 RFXANK RFXAP RORC SAMD9 SBDS SCNN1A SCNN1B SCNN1G SH2D1A SI SLC12A1 SLC16A1 SLC19A1 SLC19A2 SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC26A3 SLC26A4 SLC26A7 SLC27A5 SLC2A1 SLC2A2 SLC37A4 SLC39A4 SLC46A1 SLC52A2 SLC52A3 SLC5A1 SLC5A5 SLC5A6 SLC6A5 SLC6A6 SLC7A7 SLC7A9 SMN1 SORD SOX3 SPR SRP54 STAR STAT1 STX11 STXBP2 TANGO2 TAP1 TAP2 TAPBP TAT TBL1X TCN2 TFRC TG TH THAP11 THRA TJP2 TK2 TPK1 TPO TPP1 TRH TRHR TRPM6 TSHB TSHR TTPA TUBB1 UGT1A1 UNC13D UNG UROS USP53 VDR VKORC1 VPS45 WAS WIPF1 XIAP ZAP70 ZNF143
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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:
45 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

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:
45 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 ERF FGFR1 FGFR2 FGFR3 GINS2 IHH IL11RA MSX2 PAN2 POLR2A... Ver mais SIM2 SIX1 SMAD6 SOX6 TCF12 TWIST1 ZIC1
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Tempo estimado de entrega do resultado:
45 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 CD96 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 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:
45 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 CYP11A1 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:
45 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

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: ADNP ANKRD11 ARID1B ASH1L AUTS2 CAMK2A CHD2 CHD8 DDX3X DYRK1A EHMT1 FOXP1... Ver mais GRIA1 GRIN2B HNRNPH2 KMT2A KMT2C KMT5B MBD5 MECP2 MED12 NAA15 NEXMIF NLGN3 NLGN4X PACS1 POGZ PPM1D PTCHD1 PTEN RPL10 SCN2A SETD2 SHANK1 SHANK2 SHANK3 STXBP1 SYN1 SYNGAP1 TBL1XR1 TBR1 TRIO TRIP12 UBE3A
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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:
75 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

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

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