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ATP6V0A4 Gene Renal tubular acidosis, distal, autosomal recessive NGS Genetic Test

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ATP6V0A4 Gene Renal tubular acidosis, distal, autosomal recessive NGS Genetic Test

Short Name: ATP6V0A4 Gene dRTA NGS Test

Also known as: dRTA Genetic Test, ATP6V0A4 Mutation Analysis, Distal Renal Tubular Acidosis Genetic Test

ATP6V0A4 Gene Renal tubular acidosis, distal, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) 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.

Next Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect mutations in the ATP6V0A4 gene that cause distal renal tubular acidosis, aiding in diagnosis, treatment planning, and genetic counseling.

Test Code
5510
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree if available.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist or saliva sample collected.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider to discuss the need for genetic testing.
2
During the Test:Sample collection procedure is quick and minimally invasive.
3
After the Test:Wait for results and follow up with a genetic counselor.

About This Test

Who Should Get This Test

To detect mutations in the ATP6V0A4 gene that cause distal renal tubular acidosis, aiding in diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure sample is collected in a sterile container
  • Label sample correctly with patient details
  • Transport sample at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for ATP6V0A4 gene mutations is crucial for diagnosing distal renal tubular acidosis and guiding personalized treatment plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or saliva collection

Sample Stability

Blood sample: stable for 48 hours at room temperature
Extracted DNA: stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the ATP6V0A4 gene.
📊

No pathogenic variants detected

Normal result, but clinical correlation is advised

📊

Pathogenic variant detected

Confirms diagnosis of dRTA, genetic counseling recommended

⚠️ When to Consult a Doctor:

If symptoms of dRTA are present or if a family history of the disorder exists, consult a nephrologist or geneticist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestATP6V0A4 Gene Renal tubular acidosis, distal, autosomal recessive NGS Genetic TestUrine pH TestBlood Electrolyte Panel
ComparisonATP6V0A4 Gene Renal tubular acidosis, distal, autosomal recessive NGS Genetic TestLess specific, may not identify genetic causeIndirect assessment, not definitive for dRTA

Frequently Asked Questions

What is the ATP6V0A4 Gene Renal Tubular Acidosis Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the ATP6V0A4 gene, which cause distal renal tubular acidosis (dRTA).
How is the test performed?
The test involves collecting a blood or saliva sample, which is analyzed in a laboratory using NGS technology to identify gene mutations.
What are the symptoms of distal renal tubular acidosis?
Symptoms include frequent urination, dehydration, weakness, fatigue, loss of appetite, vomiting, bone pain, kidney stones, and growth failure in children.
Who should consider this test?
Individuals with symptoms of dRTA, a family history of the disorder, or those seeking genetic diagnosis should consider this test.
What is the cost of the test?
The cost is INR 20000, which includes sample collection, analysis, and a genetic counseling report.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What do the results mean?
Results indicate whether pathogenic mutations in the ATP6V0A4 gene are detected, confirming or ruling out dRTA.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications.
How accurate is the NGS genetic test?
NGS provides high accuracy for detecting mutations, but may not identify all variants; genetic counseling is recommended for interpretation.
Can this test be used for prenatal diagnosis?
Consult a geneticist for prenatal testing options, as this test is typically for postnatal diagnosis.
What should I do after receiving the results?
Discuss results with a healthcare provider or genetic counselor to understand implications and management options.
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

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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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