ATP6V1B1

OMIMHGNC

Synonym(s): VATB, RTA1B, Vma2, VPP3, ATP6B1

Locus: 2p13.3

Protein: V-type proton ATPase subunit B, kidney isoform

 

Disorders

Tests

Test Type
Molecular (47)
Multi-Gene Panel (33)
Multi-Method Panel (14)
Test Method
Del/Dup (CNV) (18)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (9)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (3)
Sequencing, Next Gen (35)
Prenatal/Carrier
Prenatal (18)
Carrier (28)
Lab Location
Estonia(1)
Germany(9)
Spain(5)
USA(23)
Portugal(4)
Poland(3)
Finland(2)
 
TAT: contact lab
price: $1,502.00
Hearing Loss/Deafness Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
TAT: 6-8 weeks
price: contact lab
OtoGenome™ Test for Hearing Loss and Related Syndromes (87 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 3-4 weeks
price: contact lab
ATP6V1B1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 12-13 weeks
price: contact lab
Hearing Loss: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness, Massive Sequencing (NGS) ATP6V1B1, ATP6V0A4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Bartter Syndrome, Panel Massive Sequencing (NGS) 23 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Ion Channel Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Kidney Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-6 weeks
price: contact lab
ATP6V1B1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Renal tubular acidosis, distal (sequence analysis of ATP6V1B1 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Bartter Syndrome
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 4 weeks
price: contact lab
ATP6V1B1 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 weeks
price: contact lab
Syndromic Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Renal Tubular Acidosis Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 7-10 days
price: contact lab
NewbornDx HL
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Syndromic deafness (NGS panel of 62 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Renal tubular acidosis, distal, AR (NGS panel for 3 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Syndromic and non syndromic deafness (NGS panel of 127 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
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: 2-4 weeks
price: contact lab
Single gene testing ATP6V1B1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
Renal Tubular Acidosis and Deafness
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 4-5 Weeks
price: contact lab
ATP6V1B1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hearing Loss NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 106 (Comprehensive Jewish Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 8-10 weeks
price: contact lab
NGS Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-4 weeks
price: $690.00
Distal Renal tubular acidosis with sensorineural deafness via the ATP6V1B1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Distal Renal Tubular Acidosis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $910.00
Distal Renal tubular acidosis with sensorineural deafness via the ATP6V1B1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Distal Renal Tubular Acidosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,940.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Nephrolithiasis and Nephrocalcinosis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4 weeks
price: $1,245.00
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel
method(s): ◦ Sequencing, Next Gen 
Otogenetics Corporation - Atlanta, GA, USA
TAT: ~2 weeks
price: contact lab
Renal tubular acidosis with deafness
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 weeks
price: contact lab
Bartter Syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness, Sequencing ATP6V1B1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 weeks
price: contact lab
Renal tubular acidosis panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Comprehensive Hearing Loss and Deafness Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Renal Tubular Acidosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Hearing Loss and Deafness Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Renal Tubular Acidosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: ~2 weeks
price: contact lab
FamilyReady Carrier Screen (204 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
Hereditary Kidney Disorders - different panels
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Cologne University, Institute of Human Genetics - Cologne, Germany