Distal Renal Tubular Acidosis with Sensorineural Deafness via the ATP6V1B1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7025 ATP6V1B1 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7025ATP6V1B181479 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Hereditary forms of distal renal tubular acidosis (dRTA) result from impaired acid excretion at intercalated cells in the collecting tubules and are characterized by hyperchloremic metabolic acidosis without bicarbonaturia or diarrhea (Alper 2010; Batlle et al. 2012). Common clinical features include retarded growth, osteomalacia, hypercalciuria, hypocitraturia, nephrocalcinosis, polyuria and hypokalemia. To date, known genetic defects for dRTA have found in genes encoding acid–base transporters including the basolateral anion exchanger 1 (AE1), the cytosolic carbonic anhydrase II (CA2), and the B1-subunit (ATP6V1B1) and A4 subunit (ATP6V0A4) of the vacuolar H+-ATPase (V-ATPase). Hearing loss presents in approximately one-third of patients due to defects in subunits of the V-ATPase. Recessive ATP6V1B1 pathogenic variants cause dRTA with congenital or early onset sensorineural deafness (Karet et al. 1999; Stover et al. 2002). The majority of this type of dRTA are diagnosed by age 1. Hearing loss is mostly diagnosed by age 3.

Genetics

Distal renal tubular acidosis (dRTA) with sensorineural deafness is an autosomal recessive disorder caused by ATP6V1B1 pathogenic variants (Karet et al. 1999; Stover et al. 2002). The ATP6V1B1 gene has 14 coding exons that encode the B1-subunit of the vacuolar H+-ATPase (V-ATPase), which regulates distal nephron acid secretion and also maintains the proper pH of the fluid in the inner ear. Genetic defects of ATP6V1B1 found to date include missense, nonsense, splicing mutations and small deletion/insertions (Human Gene Mutation Database). Exon-level large deletions involving ATP6V1B1 have not been reported.

Clinical Sensitivity - Sequencing with CNV PG-Select

In the original study that identified ATP6V1B1 pathogenic variants in autosomal recessive dRTA, Karet et al. studied 31 unrelated kindreds (27 had family history of consanguineous marriage) and found ATP6V1B1 pathogenic variants in 19 (61%) cases (Karet et al. 1999).

In another study of 26 patients with autosomal recessive dRTA, of which 23 are consanguineous, ATP6V1B1 pathogenic variants were found in 10 (38%) cases (Stover et al. 2002).

Testing Strategy

This test provides full coverage of all coding exons of the ATP6V1B1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with dRTA with congenital or early onset sensorineural deafness. Testing is also indicated for family members of patients who have known mutations in the ATP6V1B1 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ATP6V1B1.

Gene

Official Gene Symbol OMIM ID
ATP6V1B1 192132
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
Distal Renal Tubular Acidosis Panel
Nephrolithiasis and Nephrocalcinosis Panel

Citations

  • Alper SL. 2010. Familial renal tubular acidosis. J. Nephrol. 23 Suppl 16: S57–76. PubMed ID: 21170890
  • Batlle D, Haque SK. 2012. Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol. Dial. Transplant. 27: 3691–3704. PubMed ID: 23114896
  • Human Gene Mutation Database (Bio-base).
  • Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Pietro A Di, Hoffbrand BI, Winiarski J, et al. 1999. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat. Genet. 21: 84–90. PubMed ID: 9916796
  • Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch ABS, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. 2002. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J. Med. Genet. 39: 796–803. PubMed ID: 12414817

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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