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COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test

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COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test

COL5A2 Gene Ehlers-Danlos syndrome type 1/2 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

To diagnose mutations in the COL5A2 gene causing Ehlers-Danlos Syndrome Type 1/2 for accurate clinical management and family risk assessment.

Test Code
4912
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 Patient who is going for COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test gene COL5A2

Method: Blood draw or Buccal swab

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:Clinical History of Patient who is going for COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test gene COL5A2

About This Test

Who Should Get This Test

To diagnose mutations in the COL5A2 gene causing Ehlers-Danlos Syndrome Type 1/2 for accurate clinical management and family risk assessment.

How to Prepare

  • Provide blood sample or buccal swab as per instructions.

Doctor's Notes

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

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 Buccal swab

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL5A2 gene.
Positive result: Mutation detected, consistent with Ehlers-Danlos Syndrome Type 1/2.
Negative result: No mutation detected, but clinical correlation recommended.
⚠️ When to Consult a Doctor:

If symptoms of Ehlers-Danlos Syndrome are present or there is a family history of connective tissue disorders.

Risks & Considerations

  • ●Minimal risk from blood draw or swab collection.

Frequently Asked Questions

What is COL5A2 Gene Ehlers-Danlos Syndrome Type 1/2?
It is a rare genetic disorder caused by mutations in the COL5A2 gene, affecting connective tissues and leading to symptoms like joint hypermobility and fragile skin.
What are the common symptoms of this condition?
Common symptoms include joint hypermobility, fragile skin that bruises easily, stretchy skin, joint pain, unstable joints, flat feet, scoliosis, and delayed wound healing.
How is the NGS Genetic Test performed?
The test analyzes DNA from a blood sample or buccal swab to detect mutations in the COL5A2 gene using Next-Generation Sequencing technology.
What is the cost of the COL5A2 Gene EDS Type 1/2 NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, including analysis and interpretation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic mutation in the COL5A2 gene, confirming Ehlers-Danlos Syndrome Type 1/2.
Can this test be done for children?
Yes, the test is applicable to all ages, but genetic counseling is recommended for minors.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
What should I do before taking the test?
Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
Are there any risks associated with the test?
The test is safe and non-invasive, with minimal risks from blood draw or swab collection.
How accurate is the NGS Genetic Test for EDS Type 1/2?
The test is highly accurate for detecting mutations in the COL5A2 gene, but results should be interpreted in clinical context.
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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