Comprehensive Kidney Diseases Panel

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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 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 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

Principais Doenças Analisadas Nesse Exame:

Bartter syndrome, Liddle syndrome, nephrogenic diabetes insipidus, Hypomagnesemia, renal tubular acidosis, Gittelman syndrome, Fabry disease, Nephrotic Syndrome, Alport Syndrome, Focal segmental glomerulosclerosis (FSGS), Hemolytic-Uremic Syndrome, Polycystic renal diseases, including PKD1 (Polycystic Kidney Disease type 1), PKD2 (Polycystic Kidney Disease type 2), PKHD1 (Polycystic Kidney and Liver Disease), NOTCH2 (Hajdu-Cheney Syndrome), Medullary cystic kidney disease type 1 (MCKD1)

Outros Nomes Para Esse Exame:

Panel of Nephrological Disorders, Hereditary Kidney Diseases, Panel of Genes Related to Kidney Diseases

Especialidades:

Nephrology

Fale Conosco

Tempo estimado de entrega do resultado:

45 dias

Como funciona?

SOLICITAÇÃO

Solicite o kit de coleta pelo formulário de contato ou pelo e-mail contato@mendelics.com

COLETA

Realize a coleta em casa (Swab bucal) ou em um laboratório (Sangue em EDTA)

ENVIO

Envie o material coletado para nosso laboratório

RESULTADO

Acompanhe o andamento em tempo real e acesse o resultado do exame pela internet

How does it work?

REQUEST

Request the collection kit by using the contact form or sent an e-mail to contato@mendelics.com

COLLECTION

Collect saliva at home (Oral swab) or blood in a laboratory (EDTA tube)

DELIVERY

Send the collected sample to our laboratory

RESULT

Check the progress in real time and access the tests results online

¿Como funciona?

SOLICITUD

Solicite el kit de toma de muestra por medio del formulario o por el emailcontato@mendelics.com

TOMA DE MUESTRA

Realice la toma de muestra en casa (swab bucal) o en el laboratorio.

ENVIO

Envíe el material para nuestro laboratorio.

RESULTADO

Acompaña el proceso en tiempo real y acceda al resultado por internet

Como Solicitar o Kit?

Tenha o pedido médico em mãos;
Entre em contato conosco e informe o exame a ser realizado;
Escolha a forma de pagamento;
Receba o Kit de coleta em casa;

Solicitar Kit de Coleta

How to Request the Kit?

With a medical prescription;
Contact us and inform the exam to be conducted;
Choose payment option;
Receive the collection Kit at home.

Request Collection Kit

¿Cómo solicitar el Kit?

Tenga a la mano la orden médica;
Entre en contacto con nosotros e informe el examen a ser realizado;
Escoja la forma de pago;
Reciba el kit de toma de muestra en casa;

Solicitar el kit de toma de muestra

Coleta Presencial

Pacientes que se encontram em São Paulo também têm a opção de realizar o exame no próprio laboratório da Mendelics.

Collection at the lab

Patients in São Paulo also have the option to perform the test at Mendelics.

Toma de Muestra Presencial

Los pacientes que se encuentran en São Paulo también tienen la opción de realizar el examen en el laboratorio Mendelics.

Tem alguma dúvida?

Encontre as respostas para as dúvidas mais frequentes que temos para te ajudar a realizar o seu exame.

Saiba Mais

Do you have any doubts?

Find answers for frequently asked questions we selected to assist you.

Learn more

¿Tiene alguna duda?

Encuentre las respuestas de las dudas más frecuentes que tenemos para ayudarle a realizar su examen.

Sepa más

Entre em contato conosco

Contato

Contact us

Contact

Hable con nosotros

Contacto

Dirección

Teléfono

Mendelics es pionero y líder en secuenciación de nueva generación (NGS) en América Latina.

Es el único laboratorio de base genómica que obtiene acreditaciones por CAP (American College of Pathologists – # 8671464), por la Coordinación General de Acreditación de Inmetro de acuerdo con ABNT NBR ISO 15189, bajo el número CLC 0007 y por PALC (Programa de Acreditación para Laboratorios Clínicos – # 32290508).

Responsable técnico: Dr. Fernando Kok | CRM-SP 32.255

Address

Phones

Mendelics is a pioneer and leader in New Generation Sequencing (NGS) in Latin America.

It is the only genomically based laboratory to obtain accreditations by CAP (American College of Pathologists – # 8671464), by Inmetro’s General Coordination for Accreditation in accordance with ABNT NBR ISO 15189, under the number CLC 0007 and by PALC (Program for Accreditation of Clinical Laboratories – # 32290508).

Technical responsible: Dr. Fernando Kok | CRM-SP 32.255

Comprehensive Kidney Diseases Panel

Comprehensive Kidney Diseases Panel