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COL5A1 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test

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COL5A1 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test

Short Name: COL5A1 EDS Type 1/2 NGS Test

Also known as: EDS Type 1/2 Genetic Test, COL5A1 Mutation Analysis

COL5A1 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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

The purpose of the COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic Test is to detect mutations in the COL5A1 gene that cause EDS Type 1/2. This test confirms the diagnosis, identifies the specific genetic mutation, aids in differential diagnosis from other connective tissue disorders, and supports genetic counseling for affected individuals and their families.

Test Code
4909
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history of the patient is required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with EDS Type 1/2.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Blood sample collection is performed by a trained phlebotomist.
3
After the Test:Results are analyzed and reported within 3 to 4 weeks. Follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

The purpose of the COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic Test is to detect mutations in the COL5A1 gene that cause EDS Type 1/2. This test confirms the diagnosis, identifies the specific genetic mutation, aids in differential diagnosis from other connective tissue disorders, and supports genetic counseling for affected individuals and their families.

How to Prepare

  • Provide detailed clinical and family history
  • Ensure proper sample labeling
  • Avoid hemolyzed samples
  • Store samples at ambient room temperature if not processed immediately

Doctor's Notes

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

"Genetic testing for EDS Type 1/2 is crucial for accurate diagnosis, management, and family planning. Early detection can help in preventing complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples: stable for 48 hours at room temperature
Extracted DNA: stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample type
  • Missing patient information

Understanding Your Results

Results from the COL5A1 Gene NGS Test indicate the presence or absence of pathogenic mutations in the COL5A1 gene. Interpretation should be done by a qualified geneticist or healthcare provider.
📊

No pathogenic variants detected

Negative result; EDS Type 1/2 due to COL5A1 mutation is unlikely, but clinical correlation is advised.

📊

Pathogenic variant(s) detected

Positive result; confirms diagnosis of EDS Type 1/2. Genetic counseling recommended for family planning.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of EDS Type 1/2, have a family history of the condition, or receive abnormal test results for further management and genetic counseling.

Limitations

  • ⚠May not detect all types of COL5A1 mutations
  • ⚠Cannot rule out other genetic causes of EDS
  • ⚠Results require clinical correlation
  • ⚠Limited to known pathogenic variants in databases

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage
  • ●Recent blood transfusion

Frequently Asked Questions

What is Ehlers-Danlos Syndrome Type 1/2?
Ehlers-Danlos Syndrome Type 1/2 is a genetic connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and easy bruising, caused by mutations in the COL5A1 gene.
What is the COL5A1 gene?
The COL5A1 gene provides instructions for making a component of type V collagen, which is important for connective tissue structure. Mutations in this gene can lead to EDS Type 1/2.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing technology to analyze the DNA from a blood sample, identifying mutations in the COL5A1 gene with high accuracy.
What is the cost of the test?
The cost of the COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic Test at DNA Labs India is INR 20,000, inclusive of sample collection and analysis.
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 this test across many cities in India.
What sample type is required?
The test requires blood, 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.
Who should consider this test?
Individuals with symptoms of EDS Type 1/2, such as joint hypermobility and skin hyperextensibility, or those with a family history of the condition.
What do the results mean?
A positive result indicates the presence of a pathogenic COL5A1 mutation, confirming EDS Type 1/2. A negative result suggests no such mutation, but clinical correlation is needed.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand the implications and for family planning.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Psychological impact of results is possible, so counseling is advised.
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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