COL6A2 Gene Myosclerosis, autosomal recessive NGS Genetic Test
Short Name: COL6A2 Myosclerosis NGS
Also known as: COL6A2 Gene Mutation Testing, Myosclerosis Genetic Test, Collagen VI gene sequencing
COL6A2 Gene Myosclerosis, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports will be available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to detect mutations in the COL6A2 gene that cause autosomal recessive myosclerosis. It is used to confirm a suspected diagnosis in symptomatic individuals, provide prognostic information based on the specific variant, identify carrier status for at-risk family members, and guide reproductive decisions. NGS technology allows high-throughput sequencing of all exons and splice sites of COL6A2 with high sensitivity and specificity, enabling accurate molecular diagnosis of this rare neuromuscular disorder.
- Test Code
- 4387
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports will be available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is mandatory before sample collection to draw a three-generation family pedigree and assess the appropriateness of the test. The patient should bring previous medical records, MRI/EMG reports, and information about affected and unaffected family members. If the patient is on anticoagulant therapy, the clinical team should be informed prior to blood draw.
Method: Peripheral blood draw or FTA card sample
Laboratory Analysis
A peripheral blood sample (2-3 mL) will be collected in an EDTA tube by a trained phlebotomist. For FTA card samples, a drop of blood from a finger prick is placed on the designated card and allowed to air dry. The procedure is quick and minimally invasive. No fasting is required. For extracted DNA submission, a minimum of 2 µg of high-quality DNA is recommended and should be shipped on dry ice.
Report Delivery
Blood samples should be transported to the laboratory at ambient temperature for EDTA samples or at room temperature for FTA cards. Samples should reach the laboratory within 48 hours for optimal DNA yield. No special dietary or activity restrictions apply after sample collection.
Timeline: Reports will be available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect mutations in the COL6A2 gene that cause autosomal recessive myosclerosis. It is used to confirm a suspected diagnosis in symptomatic individuals, provide prognostic information based on the specific variant, identify carrier status for at-risk family members, and guide reproductive decisions. NGS technology allows high-throughput sequencing of all exons and splice sites of COL6A2 with high sensitivity and specificity, enabling accurate molecular diagnosis of this rare neuromuscular disorder.
How to Prepare
- Use EDTA vacutainer for whole blood collection
- For FTA card, ensure the blood spot is fully saturated and air-dried for 30 minutes
- Do not refrigerate FTA cards
- Label sample with patient name, date of birth, and date of collection
- Ship sample in provided biohazard bag with absorbent material
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic counseling is strongly recommended before and after testing to interpret results and discuss implications for family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient blood volume
- FTA card with too little blood or contaminated
- Incorrect label or secondary sample
- Sample shipped in leaky packaging
Understanding Your Results
Pathogenic variant in both alleles
Confirms diagnosis of autosomal recessive myosclerosis; genetic counseling recommended.
Pathogenic variant in one allele
Carrier status; no symptomatic disease expected, but 50% chance to pass variant to offspring.
Likely pathogenic variant(s) in both alleles
Diagnostic with high confidence; functional studies may be needed in some cases.
No pathogenic variant detected
Does not rule out myosclerosis; other genes or non-coding variants may be responsible.
Variant of uncertain significance (VUS)
Current evidence insufficient for classification; further family segregation studies recommended.
Consult a qualified geneticist or neurologist to discuss whether genetic testing is appropriate. A doctor may order this test if you or your child show signs of muscle weakness, joint stiffness, scoliosis, or unexplained delayed motor milestones. It is also indicated when there is a known family history of myosclerosis or COL6A2 variants. Before undergoing the test, a genetic counseling session is necessary to understand the benefits, limitations, and potential outcomes.
Limitations
- ⚠NGS may not reliably detect large deletions/duplications unless additional CNV analysis is performed
- ⚠Variants in non-coding regulatory regions are not fully evaluated
- ⚠Mutations in genes other than COL6A2 that cause similar phenotypes may not be identified
- ⚠Results should be interpreted in conjunction with clinical findings and family history
- ⚠Variant of uncertain significance may require further analysis or family segregation studies
Risks & Considerations
- ●No significant physical risks associated with blood draw except minor bruising
- ●No pharmacological or medical risks
- ●Psychological impact of receiving a diagnostic result
- ●Potential for uncertain genetic result that may require additional testing
Interfering Factors
- ●Contamination of sample with another person's DNA
- ●Poor quality DNA due to hemolysis or improper storage
- ●Low sequencing depth at specific GC-rich regions
- ●Large gene rearrangements not detectable by standard NGS panel
Compare With Similar Tests
| Test | COL6A2 Gene Myosclerosis, autosomal recessive NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | COL6A2 Gene Myosclerosis, autosomal recessive NGS Genetic Test | NGS full-gene sequencing covers all exons and splice sites with high accuracy, cost-effective, and faster than Sanger sequencing. | Sequences COL6A1, COL6A2, and COL6A3 in a single assay; more comprehensive for related myopathies. | Analyzes all known gene coding regions; broader scope, higher probability of unsolicited findings. |
Frequently Asked Questions
What is myosclerosis?
How is myosclerosis inherited?
What does this test detect?
Who should take this test?
What sample is needed?
Is fasting required before sample collection?
How long does the test take?
What is the cost of the test?
What do results mean?
Can this test detect carriers?
Does DNA Labs India provide genetic counseling?
Is the test available all over India?
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