COL3A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test
Short Name: COL3A1 EDS Type 4 NGS Test
Also known as: Vascular EDS, EDS Type 4, COL3A1-related EDS
COL3A1 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose vascular Ehlers-Danlos syndrome by detecting mutations in the COL3A1 gene using next-generation sequencing. It aids in confirming clinical suspicion, guiding treatment decisions, and assessing familial risk.
- Test Code
- 4914
- 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)
Sample Collection
A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with EDS are recommended before sample collection.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample is collected via venipuncture or finger prick into an EDTA tube or FTA card under sterile conditions.
Report Delivery
Sample is labeled, stored at ambient temperature, and shipped to the lab for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose vascular Ehlers-Danlos syndrome by detecting mutations in the COL3A1 gene using next-generation sequencing. It aids in confirming clinical suspicion, guiding treatment decisions, and assessing familial risk.
How to Prepare
- Ensure patient identification and consent
- Use aseptic technique for blood draw
- Label sample correctly with patient details
- Store at room temperature and avoid freezing
- Transport to lab within 48 hours
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of vascular EDS is crucial for managing life-threatening complications. This NGS test provides accurate detection of COL3A1 mutations, enabling personalized care and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrect sample type or container
- Missing patient information or consent
- Sample older than 48 hours without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of vascular EDS. Genetic counseling and management by a specialist are advised.
Likely pathogenic variant detected
High probability of vascular EDS. Clinical correlation and family testing recommended.
Variant of uncertain significance (VUS)
Variant not clearly linked to disease. Repeat testing or family studies may be needed.
No pathogenic variant detected
Does not rule out EDS entirely. Consider other genetic tests or clinical assessment.
Consult a doctor if you have symptoms like thin skin, easy bruising, poor wound healing, or a family history of vascular EDS. Also, seek advice after receiving test results for personalized management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other genetic causes of EDS
- ⚠Turnaround time of 3-4 weeks may delay diagnosis
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Very low risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample volume
- ●Recent blood transfusion may affect results
- ●Hemolyzed or lipemic blood samples
Compare With Similar Tests
| Test | COL3A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test | COL5A1 Gene EDS Test | COL1A1 Gene EDS Test | Skin Biopsy with Electron Microscopy |
|---|---|---|---|---|
| Comparison | COL3A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test | Targets classical EDS, different gene and symptoms. | For arthrochalasia EDS, involves type I collagen. | Morphological assessment, less specific than genetic testing. |
Frequently Asked Questions
What is vascular Ehlers-Danlos syndrome?
How is the COL3A1 genetic test performed?
What is the cost of this test?
Who should get this test?
How long does it take to get results?
Is genetic counseling required?
What sample is needed for the test?
Are there any risks to the test?
Can this test detect all mutations?
Is home sample collection available?
What if the test result is negative?
How do I book this test?
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₹7,000Reference 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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