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ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test

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ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test

Short Name: ATP6V1B1 RTA Deafness NGS Test

Also known as: RTA-Deafness syndrome, ATP6V1B1-related renal tubular acidosis

ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Renal Tubular Acidosis with Deafness caused by ATP6V1B1 gene mutations, identify carriers, and guide treatment and management strategies.

Test Code
5508
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history and genetic counseling session recommended.

Step 2

Laboratory Analysis

Blood sample collected via venipuncture.

Step 3

Report Delivery

Sample sent to lab for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent required.
2
During the Test:Blood sample collection.
3
After the Test:Results available in 3-4 weeks; follow-up with geneticist recommended.

About This Test

Who Should Get This Test

To diagnose Renal Tubular Acidosis with Deafness caused by ATP6V1B1 gene mutations, identify carriers, and guide treatment and management strategies.

How to Prepare

  • Ensure proper sample labeling
  • Use sterile collection tubes

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for ATP6V1B1 is crucial for diagnosing RTA-Deafness syndrome and guiding management for kidney and hearing issues."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable at -20°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of mutations in the ATP6V1B1 gene associated with Renal Tubular Acidosis with Deafness.
📊

Positive for pathogenic variant

Confirms diagnosis of RTA-Deafness syndrome; genetic counseling and management recommended.

📊

Negative

No pathogenic variants detected; clinical correlation advised.

📊

Variant of uncertain significance

Further testing and family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms of kidney dysfunction or hearing loss are present, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all variants
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Genetic implications for family members

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic TestSLC4A1 Gene TestComprehensive Renal Panel
ComparisonATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic TestFor distal RTA without deafnessBroader genetic testing for kidney disorders

Frequently Asked Questions

What is ATP6V1B1 Gene Renal Tubular Acidosis with Deafness?
It is a rare genetic disorder caused by mutations in the ATP6V1B1 gene, leading to kidney dysfunction and hearing loss.
What are the symptoms of this condition?
Symptoms include kidney stones, frequent urination, hearing loss, low potassium, acidosis, growth retardation, and delayed puberty.
How is ATP6V1B1 Gene Renal Tubular Acidosis with Deafness diagnosed?
Diagnosis involves medical history, physical exam, blood/urine tests, and genetic testing using NGS to identify ATP6V1B1 mutations.
What is the cost of the NGS Genetic Test at DNA Labs India?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Reports are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result mean?
A positive result confirms the presence of ATP6V1B1 gene mutations, indicating RTA-Deafness syndrome, and guides management and genetic counseling.
Can this test identify carriers of the gene mutation?
Yes, the test can detect carriers who may not show symptoms but can pass the mutation to offspring.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is recommended before testing to draw a pedigree chart and discuss implications.
What are the treatment options for this condition?
Treatment focuses on managing acid-base imbalance with alkali therapy, addressing hearing loss with aids, and ongoing medical monitoring.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY, but private insurance may depend on the policy.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting genetic variations, but interpretation should be done by a qualified geneticist.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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