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COL6A1 Gene Bethlem Myopathy NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

COL6A1 Gene Bethlem Myopathy NGS Genetic Test

Short Name: COL6A1 Bethlem Myopathy Test

Also known as: Collagen VI-related Myopathy Test, COL6A1 Sequencing Test

COL6A1 Gene Bethlem Myopathy 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the COL6A1 Gene Bethlem Myopathy NGS Genetic Test is to detect mutations in the COL6A1 gene for confirming a diagnosis of Bethlem myopathy, assessing disease risk, guiding treatment strategies, and facilitating genetic counseling for affected individuals and their families.

Test Code
4550
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

Pre-test information: Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Bethlem myopathy.

Method: Blood draw or Saliva collection

Step 2

Laboratory Analysis

Sample collection via blood draw or saliva collection, performed by a trained phlebotomist at home or in a clinic.

Step 3

Report Delivery

Post-collection care: Apply pressure to the blood draw site to prevent bruising. Store samples as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood or saliva sample collection takes about 10-15 minutes.
3
After the Test:Resume normal activities. Monitor the collection site for any discomfort.

About This Test

Who Should Get This Test

The purpose of the COL6A1 Gene Bethlem Myopathy NGS Genetic Test is to detect mutations in the COL6A1 gene for confirming a diagnosis of Bethlem myopathy, assessing disease risk, guiding treatment strategies, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Use sterile equipment for blood collection
  • For saliva, avoid eating or drinking 30 minutes prior
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing is crucial for confirming Bethlem myopathy and guiding management. Consult a genetic counselor for personalized advice and family planning."

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 Saliva collection
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Insufficient sample volume
  • Contaminated or mislabeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the COL6A1 gene. Interpretation should be done by a geneticist or healthcare provider.
📊

Pathogenic variant detected

Confirms diagnosis of Bethlem myopathy; guide management and family counseling.

📊

No pathogenic variant detected

Bethlem myopathy is unlikely; consider other diagnoses or further testing.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as progressive muscle weakness, joint stiffness, breathing difficulties, or have a family history of Bethlem myopathy.

Limitations

  • ⚠Results should be interpreted by healthcare professionals experienced in genetics
  • ⚠May not detect all genetic variants or structural changes
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is Bethlem myopathy?
Bethlem myopathy is a rare genetic disorder caused by mutations in the COL6A1 gene, leading to muscle weakness, joint contractures, and skin abnormalities.
What does the COL6A1 Gene Bethlem Myopathy NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the COL6A1 gene for mutations, using a blood or saliva sample.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Who should get this test?
Individuals with symptoms of Bethlem myopathy, such as muscle weakness or joint stiffness, or those with a family history of the condition.
How is the sample collected?
Samples are collected via blood draw or saliva collection at home or in a clinic by trained professionals.
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.
What do the results mean?
Results indicate the presence or absence of mutations in the COL6A1 gene, which should be interpreted by a geneticist for diagnosis and management.
Is the test covered by insurance?
Coverage varies; check with your insurance provider or healthcare scheme for details.
What are the risks of the test?
Risks are minimal, including minor bruising at the blood draw site and rare infection risk.
Can this test diagnose other conditions?
The test specifically targets COL6A1 gene mutations for Bethlem myopathy; other conditions may require different tests.
How do I prepare for genetic counseling?
Prepare by gathering family medical history and discussing symptoms with a genetic counselor before the 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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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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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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