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COL1A1 Gene Ehlers-Danlos syndrome type 7A NGS Genetic Test

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COL1A1 Gene Ehlers-Danlos syndrome type 7A NGS Genetic Test

Short Name: EDS7A NGS Test

Also known as: Ehlers-Danlos syndrome type 7A, EDS7A, COL1A1-related EDS

COL1A1 Gene Ehlers-Danlos syndrome type 7A 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the COL1A1 gene for diagnosis of Ehlers-Danlos syndrome type 7A, aiding in clinical management and genetic counseling.

Test Code
4919
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

Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of family members affected with EDS7A.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

The sample will be processed and sent for NGS analysis in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of family members affected with EDS7A.
2
During the Test:A blood sample will be collected via venipuncture from a vein in the arm.
3
After the Test:The sample will be processed and sent for NGS analysis in the laboratory.

About This Test

Who Should Get This Test

To identify mutations in the COL1A1 gene for diagnosis of Ehlers-Danlos syndrome type 7A, aiding in clinical management and genetic counseling.

How to Prepare

  • Provide clinical history of the patient
  • Undergo a genetic counseling session
  • No fasting required prior to sample collection
  • Ensure the sample is collected in a sterile environment

Doctor's Notes

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

"Genetic testing with NGS is recommended for accurate diagnosis of Ehlers-Danlos syndrome type 7A, aiding in management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL1A1 gene, which are associated with Ehlers-Danlos syndrome type 7A.
Positive: Pathogenic variant detected in COL1A1 gene, consistent with EDS7A diagnosis
Negative: No pathogenic variants detected, reducing likelihood of EDS7A but not excluding other conditions
Variant of uncertain significance (VUS): Genetic variant identified but clinical significance unknown; further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of EDS7A such as joint hypermobility, fragile skin, or joint dislocations are present, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations in the COL1A1 gene, such as large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling for interpretation
  • ⚠Variant of uncertain significance (VUS) may be identified, necessitating further testing

Risks & Considerations

  • ●Minor bruising or discomfort at the puncture site
  • ●Rare risk of infection or bleeding
  • ●Potential for anxiety related to genetic test results

Frequently Asked Questions

What is Ehlers-Danlos syndrome type 7A (EDS7A)?
EDS7A is a rare genetic disorder affecting connective tissues, caused by mutations in the COL1A1 gene, leading to symptoms like joint hypermobility and fragile skin.
What causes EDS7A?
EDS7A is caused by mutations in the COL1A1 gene, which provides instructions for making collagen type I, a key protein in connective tissues.
What are the common symptoms of EDS7A?
Symptoms include joint hypermobility, fragile skin that bruises easily, joint dislocations, muscle weakness, short stature, blue sclera, and dental problems.
How is EDS7A diagnosed?
Diagnosis involves clinical evaluation and genetic testing, with Next-Generation Sequencing (NGS) of the COL1A1 gene being the most reliable method.
What is the COL1A1 Gene NGS Genetic Test?
It is a genetic test that uses NGS technology to identify mutations in the COL1A1 gene for diagnosing EDS7A.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the test?
No, fasting is not required for this genetic test.
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 in numerous cities across India.
What are the treatment options for EDS7A?
There is no cure, but treatment focuses on managing symptoms with physical therapy, pain medications, surgery, dental care, and regular monitoring.
Who should consider this test?
Individuals with symptoms of EDS7A, a family history of the disorder, or those seeking genetic counseling for connective tissue disorders should consider this test.
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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