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ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test

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ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test

Short Name: ATP6V0A2 WSS NGS Test

Also known as: Wrinkly Skin Syndrome, WSS, ATP6V0A2-related disorder

ATP6V0A2 Gene Wrinkly skin syndrome 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.

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 Wrinkly Skin Syndrome by identifying mutations in the ATP6V0A2 gene, confirm clinical suspicions, assess genetic risk, and guide personalized management and family planning.

Test Code
5174
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Wrinkly Skin Syndrome.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Standard blood draw procedure: clean the site, collect blood in an EDTA tube or apply one drop to an FTA card, label properly.

Step 3

Report Delivery

Store sample at ambient room temperature and transport to the lab promptly for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling to assess family risk and understand test implications.
2
During the Test:A blood sample is collected via venipuncture or finger-prick; the procedure is quick and minimally invasive.
3
After the Test:Sample is processed in the lab using NGS technology; results are available in 3-4 weeks and delivered via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To diagnose Wrinkly Skin Syndrome by identifying mutations in the ATP6V0A2 gene, confirm clinical suspicions, assess genetic risk, and guide personalized management and family planning.

How to Prepare

  • Ensure patient is relaxed and hydrated
  • Use sterile equipment for blood collection
  • Label sample with patient details and test name
  • Avoid hemolysis by gentle handling

Doctor's Notes

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

"Genetic testing for ATP6V0A2 gene mutations is essential for confirming Wrinkly Skin Syndrome diagnosis, assessing severity, and guiding family planning and management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples stable at room temperature for 48 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Contaminated samples

Understanding Your Results

Results are interpreted based on the presence or absence of mutations in the ATP6V0A2 gene. A positive result confirms a diagnosis of Wrinkly Skin Syndrome, while a negative result may require further testing if clinical suspicion remains high.
📊

Pathogenic mutation detected

Confirms diagnosis of Wrinkly Skin Syndrome; genetic counseling recommended.

📊

Likely pathogenic mutation detected

Strong indication of WSS; clinical correlation and family testing advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

📊

No mutation detected

WSS unlikely but does not exclude other genetic disorders; consider additional tests.

⚠️ When to Consult a Doctor:

Consult a doctor if you or a family member exhibits symptoms such as thick wrinkled skin, joint stiffness, delayed growth, or scoliosis, especially with a family history of genetic disorders.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions or duplications)
  • ⚠Results require clinical correlation for diagnosis
  • ⚠Genetic variants of uncertain significance may be identified
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●No significant long-term risks

Interfering Factors

  • ●Poor sample quality (e.g., hemolyzed blood)
  • ●Contamination during sample collection or processing
  • ●Insufficient DNA quantity
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is Wrinkly Skin Syndrome?
Wrinkly Skin Syndrome is a rare genetic disorder caused by mutations in the ATP6V0A2 gene, leading to thick, wrinkled skin, joint stiffness, and connective tissue abnormalities.
How is the ATP6V0A2 Gene Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the ATP6V0A2 gene from a blood or DNA sample, detecting mutations associated with the syndrome.
What is the cost of the test in India?
The ATP6V0A2 Gene NGS Genetic Test costs INR 20000 at DNA Labs India, with free home sample collection available.
Who should get this test?
Individuals with symptoms of Wrinkly Skin Syndrome, such as wrinkled skin and joint stiffness, or those with a family history of the disorder should consider this test.
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, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What sample type is required?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What do the results mean?
A positive result confirms mutations in the ATP6V0A2 gene, indicating Wrinkly Skin Syndrome. A negative result suggests the syndrome is unlikely, but further evaluation may be needed.
Can this test detect other genetic disorders?
While focused on ATP6V0A2, NGS may identify variants in other genes, but it is primarily for diagnosing Wrinkly Skin Syndrome.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications, family risk, and management options.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting gene mutations, but results should be correlated with clinical findings for diagnosis.
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.

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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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