COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic Test
Short Name: COL6A3 NGS Test
Also known as: COL6A3 Gene Mutation Test, Bethlem Myopathy Type 1 Genetic Test, Collagen VI-Related Myopathy NGS Test
COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card Blood samples. Results in Test results are generally delivered within 3 to 4 weeks from the date the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the COL6A3 gene that cause Bethlem Myopathy Type 1. It is used to confirm a clinical diagnosis, differentiate from other inherited muscle disorders, assess family history risk, and provide a basis for genetic counseling and management planning. NGS technology enables simultaneous analysis of all exons of the COL6A3 gene, offering a highly accurate and comprehensive result.
- Test Code
- 3936
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / FTA Card Blood
- Result Time
- Test results are generally delivered within 3 to 4 weeks from the date the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with COL6A3-related disorders. This helps in interpreting results accurately.
Method: Blood draw or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA tube or a few drops of blood on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
No special precautions are needed after sample collection. You can resume normal activities immediately.
Timeline: Test results are generally delivered within 3 to 4 weeks from the date the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the COL6A3 gene that cause Bethlem Myopathy Type 1. It is used to confirm a clinical diagnosis, differentiate from other inherited muscle disorders, assess family history risk, and provide a basis for genetic counseling and management planning. NGS technology enables simultaneous analysis of all exons of the COL6A3 gene, offering a highly accurate and comprehensive result.
How to Prepare
- If using blood sample: Collect in an EDTA vacutainer tube.
- If using FTA card: Apply 2-3 drops of blood onto the designated spot and allow to air dry.
- Do not freeze the FTA card.
- Label the sample tube/card with patient name and date of collection.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for COL6A3 is essential for confirming Bethlem Myopathy Type 1 and providing accurate genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Clotted blood sample
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Pathogenic
Confirms diagnosis of Bethlem Myopathy Type 1; autosomal dominant inheritance expected.
Likely Pathogenic
Likely confirms diagnosis; additional evidence may be needed in some cases.
Variant of Uncertain Significance (VUS)
Cannot determine clinical significance; further family studies may be helpful.
Likely Benign
Unlikely to cause disease; no clinical action needed.
Benign
No disease association; normal finding.
Consult a neurologist or geneticist if you or your child experience progressive muscle weakness, joint contractures, scoliosis, or if there is a family history of Bethlem myopathy. Genetic counseling before and after the test is essential for understanding implications.
Limitations
- ⚠NGS may not detect certain large structural rearrangements, deep intronic variants, or repeat expansions
- ⚠Variants of unknown significance may be identified, requiring additional family segregation studies
- ⚠Test results should be interpreted in the context of clinical presentation and family history
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Dizziness or fainting during blood collection
Interfering Factors
- ●Insufficient quantity or quality of extracted DNA
- ●Sample contamination with other biological material
- ●Presence of large deletions/duplications not detectable by standard NGS
Compare With Similar Tests
| Test | COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic Test | Traditional Sanger Sequencing | NGS COL6A3 Gene Test |
|---|---|---|---|
| Comparison | COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic Test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the test report?
What conditions are caused by mutations in the COL6A3 gene?
How does NGS technology help in diagnosing Bethlem Myopathy Type 1?
Can this test be performed on an FTA card sample?
Will the test detect all types of mutations in the COL6A3 gene?
Is genetic counseling provided with the test?
Is the test available across India?
Who should consider taking this genetic test?
What is the difference between Bethlem Myopathy Type 1 and other collagen VI disorders?
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