COL6A2 Gene Bethlem Myopathy NGS Genetic Test
Short Name: COL6A2 NGS Genetic Test
Also known as: COL6A2 Gene Mutation Test, Bethlem Myopathy Genetic Panel via NGS, Collagen VI Myopathy NGS Analysis, COL6A2 Sequencing Test
COL6A2 Gene Bethlem Myopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered in 3 to 4 weeks after the sample reaches the laboratory. Urgent cases may be expedited upon request at additional cost.. 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 NGS genetic test is to detect pathogenic mutations in the COL6A2 gene that are responsible for Bethlem myopathy. It aids in confirming a clinical diagnosis, identifying carriers, and enabling genetic counselling for affected families. The test also helps differentiate Bethlem myopathy from other neuromuscular disorders with overlapping symptoms, such as limb-girdle muscular dystrophy, congenital myopathies, or other collagen VI-related disorders.
- Test Code
- 3933
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered in 3 to 4 weeks after the sample reaches the laboratory. Urgent cases may be expedited upon request at additional cost.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing confirmation
Sample Collection
A genetic counselling session is recommended before the test to draw a pedigree chart of family members affected with COL6A2 gene Bethlem myopathy and to discuss the purpose, limitations, and implications of testing. No fasting is required.
Method: Venipuncture or FTA card spot
Laboratory Analysis
The sample is collected by a trained phlebotomist. For blood sample, 2-3 mL of peripheral blood is drawn into an EDTA vacutainer. Alternatively, a dried blood spot on a specially provided FTA card may be collected using a simple finger prick. The procedure is quick and painless.
Report Delivery
No special precautions are needed after sample collection. Patients may resume normal activities immediately. The sample should be transported to the laboratory at ambient temperature as per the provided instructions.
Timeline: Reports are delivered in 3 to 4 weeks after the sample reaches the laboratory. Urgent cases may be expedited upon request at additional cost.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the COL6A2 gene that are responsible for Bethlem myopathy. It aids in confirming a clinical diagnosis, identifying carriers, and enabling genetic counselling for affected families. The test also helps differentiate Bethlem myopathy from other neuromuscular disorders with overlapping symptoms, such as limb-girdle muscular dystrophy, congenital myopathies, or other collagen VI-related disorders.
How to Prepare
- Use aseptic technique for venipuncture.
- Collect blood in an EDTA (lavender-top) vacutainer.
- If using FTA card, apply one drop of blood onto each of the indicated circles.
- Label the sample container with the patient's name, date of birth, and collection date.
- Store the EDTA tube at 2-8°C if transport is delayed, but ideally send within 24 hours.
- Do not freeze whole blood sample intended for DNA extraction.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Bethlem myopathy is essential for accurate diagnosis and family planning. Non-invasive blood sample NGS offers a reliable and affordable option in India."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Insufficient sample volume
- Improperly labelled sample
- Sample received in a non-standard tube
- Sample in formalin or other fixative
- Contaminated sample
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant in COL6A2 was identified. This confirms the clinical suspicion of Bethlem myopathy.
Negative
No COL6A2 pathogenic variant was found. Consider testing COL6A1, COL6A3, or other neuromuscular gene panels if symptoms persist.
Carrier
In an autosomal recessive context, a single pathogenic variant indicates carrier status, but Bethlem myopathy is usually autosomal dominant due to dominant-negative effects.
Variant of Uncertain Significance (VUS)
A DNA change was identified whose impact on protein function is unknown. Further family segregation studies are needed.
Consult a neurologist or clinical geneticist if you have unexplained muscle weakness, joint contractures, or a family history of Bethlem myopathy. Also seek medical advice before undergoing this genetic test for appropriate pre-test counselling and post-test interpretation.
Limitations
- ⚠NGS may not detect large genomic deletions, duplications, or deep intronic variants.
- ⚠A negative result does not completely rule out Bethlem myopathy if clinical suspicion is high; other genes such as COL6A1 or COL6A3 may be involved.
- ⚠Variants of uncertain significance (VUS) may require additional family studies.
- ⚠Genetic testing cannot predict disease severity or progression for an individual patient.
- ⚠Results should always be interpreted in conjunction with clinical findings by a qualified geneticist.
Risks & Considerations
- ●No significant physical risks. Venipuncture may cause minor bruising or discomfort.
- ●Potential psychological impact of genetic results, including anxiety or grief.
- ●Risk of incidental findings or variants of uncertain significance.
- ●Impact on family relationships or insurance eligibility (genetic discrimination concerns).
Interfering Factors
- ●Polymorphisms and benign variants in the COL6A2 gene
- ●Variants in regulatory regions not captured by standard NGS
- ●Low DNA quality or quantity from improper sample handling
- ●Presence of maternal cell contamination in fetal samples
- ●Unreported or incorrect family history affecting variant interpretation
Compare With Similar Tests
| Test | COL6A2 Gene Bethlem Myopathy NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | COL6A2 Gene Bethlem Myopathy NGS Genetic Test |
Frequently Asked Questions
What is Bethlem myopathy?
What is the COL6A2 gene?
What does the NGS genetic test for COL6A2 detect?
What sample is required for this test?
Do I need to fast before the test?
What is the cost of the COL6A2 NGS genetic test?
How long does it take to get the results?
Is home sample collection available?
Will insurance cover the cost of this test?
What is the accuracy of the NGS test?
What if my test result is negative?
Can this test be used for prenatal diagnosis?
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