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ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive NGS Genetic Test

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ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive NGS Genetic Test

Also known as: Cutis Laxa Type 2A, ATP6V0A2-related cutis laxa, Autosomal recessive cutis laxa type 2A

ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the ATP6V0A2 Gene Cutis Laxa Type 2A NGS Genetic Test is to diagnose Cutis Laxa Type 2A by identifying mutations in the ATP6V0A2 gene. It aids in confirming clinical suspicion, differentiating from other genetic disorders, assessing carrier status in family members, and informing genetic counseling and management strategies.

Test Code
4881
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 of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Cutis Laxa Type 2A.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:The test involves a simple blood draw or DNA sample collection.
3
After the Test:Results are delivered online, and follow-up with a genetic counselor is advised for interpretation.

About This Test

Who Should Get This Test

The purpose of the ATP6V0A2 Gene Cutis Laxa Type 2A NGS Genetic Test is to diagnose Cutis Laxa Type 2A by identifying mutations in the ATP6V0A2 gene. It aids in confirming clinical suspicion, differentiating from other genetic disorders, assessing carrier status in family members, and informing genetic counseling and management strategies.

How to Prepare

  • Collect blood sample via venipuncture or use extracted DNA or FTA card
  • Ensure proper labeling and handling to avoid contamination

Doctor's Notes

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

"Genetic testing for ATP6V0A2 gene mutations is essential for confirming diagnosis of Cutis Laxa Type 2A, enabling early intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples should be stored at ambient room temperature and processed promptly
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume

Understanding Your Results

Interpretation of the ATP6V0A2 Gene Cutis Laxa Type 2A test results involves analyzing the detected genetic variants for pathogenicity. Positive results indicate mutations associated with the disorder, while negative results suggest no pathogenic variants in the tested gene.
📊

Positive for pathogenic variants

Confirms diagnosis of Cutis Laxa Type 2A; genetic counseling recommended for family planning

📊

Negative for pathogenic variants

Reduces likelihood of ATP6V0A2-related Cutis Laxa Type 2A; consider other genetic or clinical evaluations

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you or a family member exhibit symptoms such as loose skin, delayed development, or joint laxity, or if there is a family history of Cutis Laxa Type 2A.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is ATP6V0A2 Gene Cutis Laxa Type 2A?
It is a rare autosomal recessive genetic disorder caused by mutations in the ATP6V0A2 gene, leading to connective tissue abnormalities such as loose, sagging skin.
What are the symptoms of Cutis Laxa Type 2A?
Symptoms include loose skin, delayed development, joint laxity, short stature, delayed speech, intellectual disability, and potential respiratory or cardiac issues.
How is Cutis Laxa Type 2A diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS analysis of the ATP6V0A2 gene, often after clinical evaluation.
What is the cost of the ATP6V0A2 genetic test in India?
The test costs INR 20,000, with home sample collection available across India.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is needed.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be used for family members?
Yes, it can diagnose the condition in family members at risk of inheriting the mutation.
What does a positive result mean?
A positive result confirms mutations in the ATP6V0A2 gene, indicating Cutis Laxa Type 2A, and genetic counseling is recommended.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, but psychological impacts of results should be considered.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What should I do if I suspect Cutis Laxa Type 2A?
Consult a healthcare provider or genetic counselor to discuss symptoms and the appropriateness of genetic testing.
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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