PKD1

OMIMHGNC

Synonym(s): PBP, Pc-1, TRPP1

Locus: 16p13.3

Protein: Polysystin 1

 

Disorders

Tests

Test Type
Molecular (48)
Multi-Gene Panel (29)
Multi-Method Panel (16)
Test Method
Del/Dup (CNV) (27)
Linkage Analysis (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (17)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (22)
Prenatal/Carrier
Prenatal (10)
Carrier (17)
Lab Location
Portugal(8)
United Kingdom(1)
Germany(9)
Spain(7)
USA(18)
Brazil(1)
Turkey(1)
Finland(3)
 
Polycystic kidney disease AD (sequence analysis of PKD1 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 7-8 weeks
price: contact lab
Polycystic Kidney Disease 1, Autosomal Dominant Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Sheffield Diagnostic Genetics Service - Sheffield, United Kingdom
TAT: 1-3 weeks
price: contact lab
Polycystic Kidney Disease 1; PKD1, APKD
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Institut fur Laboratoriumsmedizin Berlin (IFLb) - Berlin, Germany
TAT: 3-4 weeks
price: contact lab
PKD1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 3-4 weeks
price: contact lab
PKD1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the PKD1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
Detection of large deletions and/or duplications in PKD1 gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
Joubert Syndrome and Related Disorders Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 7-8 weeks
price: contact lab
PKD1 Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Autosomal Dominant Polycystic Kidney Disease Types 1 and 2 , Sequencing PKD1 and PKD2 Genes
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Autosomal Dominant Polycystic Kidney Disease Type 1 , Sequencing PKD1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Polycystic kidney disease (deletion/duplication analysis of PKD1 and PKD2 genes)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Polycystic Kidney Disease 1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Autosomal Dominant Polycystic Kidney Disease Type 1, Deletions-Duplications (MLPA) PKD1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Polycystic Kidney Disease
method(s): ◦ Linkage Analysis 
Genomic Engenharia Molecular Ltda - Sao Paulo, Brazil
Polycystic Kidney Disease, Autosomal Dominant
method(s): ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
Polycystic Kidney
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Autosomal Dominant Polycystic Kidney Disease, Deletions-Duplications (MLPA) PKD1,PKD2 Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Ciliopathies (NGS panel for 90 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Contiguous TSC2/PKD1 deletion syndrome
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Polycystic kidney disease (deletion/duplication analysis of PKD1 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Polycystic kidney disease 1, AD (sequence analysis of PKD1 and PKD2 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Polycystic kidney disease (NGS panel for 3 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing PKD1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 11-12 weeks
price: $2,000.00
KidneySeq - A Comprehensive Inherited Kidney Disease Panel
method(s): ◦ Sequencing, Next Gen 
Iowa Institute of Human Genetcs (IIHG) - Iowa City, IA, USA
TAT: 3-5 weeks
price: contact lab
PKD1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 2-4 weeks
price: contact lab
Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 46 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Polycystic Kidney Disease (NextGen Sequencing Panel and Copy Number Analysis; 4 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 Weeks
price: contact lab
Congenital Hepatic Fibrosis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
PKD1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Polycystic Kidney Disease NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Autossomal Dominant Polycystic Kidney Disease: PKD1 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 3-4 weeks
price: contact lab
Cystic Kidney Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Polycystic Liver Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Polycystic Kidney Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 2-3 weeks
price: $540.00
Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $990.00
Autosomal Dominant and Recessive Polycystic Kidney Disease Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $960.00
Autosomal Dominant Polycystic Kidney Disease Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,030.00
Polycystic Liver Disease (PLD) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,690.00
Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,290.00
Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Autosomal Dominant Polycystic Kidney Disease Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,140.00
Polycystic Liver Disease (PLD) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: contact lab
Cystic Disease and Nephronopthisis Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: ~2 weeks
price: contact lab
Polycystic kidney disease type 1, autosomal dominant
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany