PKD2 gene related symptoms and diseases

All the information presented here about the PKD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PKD2 gene

Symptoms // Phenotype % Cases
Hematuria Very Common - Between 80% and 100% cases
Renal cyst Very Common - Between 80% and 100% cases
Recurrent urinary tract infections Very Common - Between 80% and 100% cases
Stage 5 chronic kidney disease Very Common - Between 80% and 100% cases
Abnormality of the kidney Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PKD2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hepatic cysts
  • Polycystic kidney dysplasia
  • Hypertension
  • Renal insufficiency
  • Not very common - Between 30% and 50% cases

  • Pancreatic cysts
  • Congenital hepatic fibrosis
  • Cholangitis
  • Chronic pain

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to PKD2 gene

Here you will find a list of rare diseases related to the PKD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE


Alternate names

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1, adpkd, polycystic kidney disease, adult, polycystic kidney disease, adult, type i, potter type iii polycystic kidney disease, formerly

Description

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

Most common symptoms of AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

SOURCES: ORPHANET OMIM

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Alternate names

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii, apkd2

Description

Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

Most common symptoms of POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

SOURCES: OMIM


Potential gene panels for PKD2 gene

PKDx® Familial Mutation Evaluation Panel

United States.

By Athena Diagnostics Inc PKDx® Familial Mutation Evaluation that also includes the following genes: PKD1 PKD2

More info about this panel

Complete PKD Evaluation Panel

United States.

By Athena Diagnostics Inc Complete PKD Evaluation that also includes the following genes: PKD1 PKD2

More info about this panel

PKD2 Deletion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PKD2 gene.

More info about this panel

PKD2 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PKD2 gene.

More info about this panel

PKD2 DNA Sequencing and Deletion Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PKD2 gene.

More info about this panel

NGS Connective Tissue Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2

More info about this panel

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

More info about this panel

PKD2 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the PKD2 gene.

More info about this panel

PKD2 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the PKD2 gene.

More info about this panel

Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) that also includes the following genes: DNAJB11 SEC63 ALG8 DZIP1L GANAB LRP5 PKD2 PKHD1 PRKCSH

More info about this panel

Renal Cystic Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6

More info about this panel

ExomePLUS Cystic Disease & Dysplasia/Agenesis Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Cystic Disease & Dysplasia/Agenesis that also includes the following genes: BMP4 HNF1B TSC1 TSC2 UMOD WT1 INVS NPHP4 FRAS1 ANKS6

More info about this panel

Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Deletion/Duplication that also includes the following genes: PKD1 PKD2

More info about this panel

Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing that also includes the following genes: PKD1 PKD2

More info about this panel

Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Deletion/Duplication that also includes the following genes: PKD1 PKD2

More info about this panel

Connective Tissue Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S

More info about this panel

Polycystic Kidney Disease, ADPKD - PKD1, PKD2 Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic Kidney Disease, ADPKD - PKD1, PKD2 that also includes the following genes: PKD1 PKD2

More info about this panel

Polycystic kidney and liver disease modifier panel Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L

More info about this panel

PKD2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic kidney disease (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Polycystic kidney disease (NGS panel for 3 genes) that also includes the following genes: PKD1 PKD2 PKHD1

More info about this panel

Polycystic Kidney Disease 2 (sequence analysis of PKD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic Kidney Disease (deletion/duplication analysis of PKD1 and PKD2 genes) Panel

Portugal.

By CGC Genetics Polycystic Kidney Disease (deletion/duplication analysis of PKD1 and PKD2 genes) that also includes the following genes: PKD1 PKD2

More info about this panel

Polycystic Kidney Disease (sequence analysis of PKD1 and PKD2 genes) Panel

Portugal.

By CGC Genetics Polycystic Kidney Disease (sequence analysis of PKD1 and PKD2 genes) that also includes the following genes: PKD1 PKD2

More info about this panel

Polycystic kidney disease (deletion/duplication analysis of PKD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PKD2 gene.

More info about this panel

Ciliopathies (NGS panel for 90 genes) Panel

Portugal.

By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8

More info about this panel

Polycystic kidney disease 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PKD2 gene.

More info about this panel

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Dominant Polycystic Kidney Disease (ADPKD) Sequencing Panel with CNV Detection that also includes the following genes: HNF1B DNAJB11 GANAB PKD1 PKD2

More info about this panel

Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Sequencing Panel with CNV Detection that also includes the following genes: HNF1B DNAJB11 DZIP1L GANAB PKD1 PKD2 PKHD1

More info about this panel

Autosomal Dominant Polycystic Kidney Disease via PKD2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PRKCSH

More info about this panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1

More info about this panel

Polycystic kidney disease and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Polycystic liver disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease Comprehensive panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel

Polycystic liver disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease Deletion / Duplication panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel

Polycystic kidney disease and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Polycystic liver disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease NGS panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel

Polycystic kidney disease and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Polycystic kidney disease Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Polycystic kidney disease that also includes the following genes: GANAB PKD1 PKD2 PKHD1

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

PKD2 - Polycystic Kidney Disease Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PKD2 gene.

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Polycystic Kidney Disease 2, Autosomal Dominant Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PKD2 gene.

More info about this panel

Adult dominant polycystic kidney disease Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Adult dominant polycystic kidney disease that also includes the following genes: PKD1 PKD2

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Polycystic kidney disease type 2, AD Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic kidney panel Panel

Germany.

By Centogene AG - the Rare Disease Company Polycystic kidney panel that also includes the following genes: BICC1 NOTCH2 PKD1 PKD2 PKHD1

More info about this panel

Cystic Kidney Disease Panel Panel

Germany.

By CeGaT GmbH Cystic Kidney Disease Panel that also includes the following genes: SIX5 HNF1B UMOD BICC1 EYA1 MUC1 PAX2 PKD2 PKHD1

More info about this panel

Single gene testing PKD2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PKD2 gene.

More info about this panel

PKD2 Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic kidney disease 2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic kidney disease 2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic kidney disease 2 (MLPA) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic kidney disease 2 (MLPA) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic kidney disease 2, Autosomal dominant, PKD2 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic Kidney Disease 2, Autosomal Dominant Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the PKD2 gene.

More info about this panel

Invitae Polycystic Kidney Disease Type 2 Panel Panel

United States.

By Invitae Invitae Polycystic Kidney Disease Type 2 Panel that also includes the following genes: PKD2 PKHD1

More info about this panel

Invitae Ciliopathies Panel Panel

United States.

By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237

More info about this panel

Polycystic kidney disease, types I and II: PKD1 and PKD2 genes sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Polycystic kidney disease, types I and II: PKD1 and PKD2 genes sequence analysis that also includes the following genes: PKD1 PKD2

More info about this panel

Polycystic kidney disease, type II: PKD2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PKD2 gene.

More info about this panel

POLYCYSTIC KIDNEY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases POLYCYSTIC KIDNEY that also includes the following genes: PKD1 PKD2 PKHD1

More info about this panel

Autosomal Dominant Polycystic Kidney Disease: PKD2 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the PKD2 gene.

More info about this panel

Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

More info about this panel

Connective Tissue Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel

Autosomal Dominant Polycystic Kidney Disease: PKD2 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the PKD2 gene.

More info about this panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A

More info about this panel

Connective Tissue Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel

Ciliopathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL

More info about this panel

Connective Tissue NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel

Congenital Hepatic Fibrosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Congenital Hepatic Fibrosis NGS Panel that also includes the following genes: ARL6 NEK8 TRIM32 INVS BBS7 NPHP4 EVC2 TTC8 AHI1 ARL13B

More info about this panel

Polycystic Kidney Disease NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Polycystic Kidney Disease NGS Panel that also includes the following genes: PKD1 PKD2 PKHD1

More info about this panel

PKD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PKD2 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Polycystic Liver Disease Panel Panel

Finland.

By Blueprint Genetics Polycystic Liver Disease Panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PRKCSH

More info about this panel

Cystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS

More info about this panel

Polycystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Polycystic Kidney Disease Panel that also includes the following genes: SEC63 DZIP1L GANAB JAG1 LRP5 NOTCH2 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel

Congenital Hepatic Fibrosis Panel Panel

Finland.

By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7

More info about this panel

Autosomal dominant polycystic kidney disease type 2 Panel

Spain.

By Bioarray

This panel specifically test the PKD2 gene.

More info about this panel

Cystic Disease and Nephronopthisis Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Cystic Disease and Nephronopthisis Gene Set that also includes the following genes: SIX5 HNF1B UMOD NEK8 INVS CRB2 NPHP4 BICC1 AHI1 TTC21B

More info about this panel

Polycystic kidney disease(PKD) panel Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Polycystic kidney disease(PKD) panel that also includes the following genes: PKD1 PKD2

More info about this panel

Genetic Test of single known genetic variant Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Genetic Test of single known genetic variant that also includes the following genes: BRCA1 BRCA2 TP53 TSC1 TSC2 GNAS MEN1 PKD1 PKD2 RET

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel

POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT) that also includes the following genes: BICC1 GANAB PKD1 PKD2

More info about this panel

POLYCYSTIC KIDNEY DISEASE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC KIDNEY DISEASE NGS PANEL that also includes the following genes: BICC1 DZIP1L GANAB PKD1 PKD2 PKHD1

More info about this panel

Autosomal Dominant Polycystic Kidney Disease Type 2 , Deletions-Duplications (MLPA) PKD2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PKD2 gene.

More info about this panel

Autosomal Dominant Polycystic Kidney Disease , Deletions-Duplications (MLPA) PKD1,PKD2 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Polycystic Kidney Disease , Deletions-Duplications (MLPA) PKD1,PKD2 Genes that also includes the following genes: PKD1 PKD2

More info about this panel

Autosomal Dominant Polycystic Kidney Disease Types I and II, Sequencing PKD1 and PKD2 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Polycystic Kidney Disease Types I and II, Sequencing PKD1 and PKD2 Genes that also includes the following genes: PKD1 PKD2

More info about this panel

Autosomal Dominant Polycystic Kidney Disease Type II, Sequencing PKD2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PKD2 gene.

More info about this panel

Polycystic Kidney Disease Panel

Australia.

By Genome.One Polycystic Kidney Disease that also includes the following genes: HNF1B TSC1 TSC2 UMOD OFD1 GANAB PKD1 PKD2 PKHD1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ASMT GRHPR PEX1 NOS3 MTHFS BCO1 MAGED2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more