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COL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test

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COL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test

Short Name: COL5A1 EDS Type 4 NGS Test

Also known as: Vascular Ehlers-Danlos Syndrome, EDS Type 4

COL5A1 Gene Ehlers-Danlos syndrome type 4 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)All Ages🏠 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 detect pathogenic mutations in the COL5A1 gene for definitive diagnosis of Ehlers-Danlos Syndrome Type 4 (Vascular EDS), enabling early management and genetic counseling.

Test Code
4917
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 as advised.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. Genetic counseling session recommended.
2
During the Test:Blood sample collected and sent for NGS analysis in the laboratory.
3
After the Test:Results available in 3-4 weeks. Follow-up with genetic counselor for interpretation.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the COL5A1 gene for definitive diagnosis of Ehlers-Danlos Syndrome Type 4 (Vascular EDS), enabling early management and genetic counseling.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection tubes
  • Transport samples at ambient temperature as per guidelines

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing EDS Type 4, preventing life-threatening complications, and guiding family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL5A1 gene. Genetic counseling is essential for understanding implications.
📊

Positive

Pathogenic variant detected, confirming diagnosis of EDS Type 4. Clinical correlation and management recommended.

📊

Negative

No pathogenic variants detected. Does not rule out other forms of EDS or genetic conditions.

📊

Variant of Uncertain Significance (VUS)

Genetic variant identified but clinical significance unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms suggestive of EDS are present, or after receiving test results for management and counseling.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a substitute for clinical evaluation

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, soreness, or infection at puncture site
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusions

Compare With Similar Tests

TestCOL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic TestCOL3A1 Gene EDS Type 4 NGS TestComprehensive Connective Tissue Panel
ComparisonCOL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test

Frequently Asked Questions

What is COL5A1 Gene Ehlers-Danlos Syndrome Type 4?
It is a severe form of Ehlers-Danlos Syndrome caused by mutations in the COL5A1 gene, leading to fragile blood vessels and connective tissues.
What are the common symptoms of EDS Type 4?
Symptoms include thin translucent skin, stretchy skin, poor wound healing, joint hypermobility, and risk of blood vessel rupture.
How is EDS Type 4 diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test, to detect mutations in the COL5A1 gene.
What is the NGS Genetic Test?
Next-Generation Sequencing (NGS) is an advanced technology that sequences multiple genes simultaneously to identify genetic mutations accurately.
What is the cost of the COL5A1 NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
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 a pathogenic mutation in the COL5A1 gene, confirming EDS Type 4 diagnosis. Genetic counseling is recommended.
Are there any risks associated with the genetic test?
Risks are minimal, mainly related to blood draw (e.g., bruising). Psychological impact of results should be considered.
Can this test be performed on children?
Yes, the test can be done on individuals of all ages, but parental consent and genetic counseling are advised for minors.
Is genetic counseling required before taking the test?
Yes, genetic counseling is recommended to understand the test implications, benefits, and limitations.
How accurate is the NGS Genetic Test for EDS Type 4?
NGS is highly accurate for detecting mutations in the COL5A1 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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