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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7025 | ATP6V1B1 | 81479 | 81479,81479 | $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
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
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.
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 |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Renal Tubular Acidosis With Progressive Nerve Deafness | AR | 267300 |
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.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
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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ORDER OPTIONS
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