COL12A1 Gene Bethlem Myopathy Type 2 NGS Genetic Test
Short Name: COL12A1 Bethlem Myopathy NGS
Also known as: COL12A1 Gene Sequencing, Bethlem Myopathy Type 2 Genetic Test, Collagen Type XII Alpha-1 Gene Mutation Test, COL12A1 Mutation Analysis
COL12A1 Gene Bethlem Myopathy Type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation of reported variants on Blood, Extracted DNA, or FTA Card Blood Spot samples. Results in The turnaround time for this test is 3 to 4 weeks from the date the sample is received at the laboratory. In cases where segregation analysis or additional confirmatory testing is required, the report may be delayed by an additional 1 to 2 weeks.. 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 primary purpose of this test is to identify pathogenic mutations in the COL12A1 gene that cause Bethlem myopathy type 2. This molecular confirmation helps in establishing an accurate diagnosis, enabling appropriate clinical management, providing recurrence-risk counseling for family members, and differentiating Bethlem myopathy type 2 from phenotypically overlapping neuromuscular disorders such as Ullrich congenital muscular dystrophy and other collagen VI-related myopathies.
- Test Code
- 3934
- CPT Code
- 81408
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or FTA Card Blood Spot
- Result Time
- The turnaround time for this test is 3 to 4 weeks from the date the sample is received at the laboratory. In cases where segregation analysis or additional confirmatory testing is required, the report may be delayed by an additional 1 to 2 weeks.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation of reported variants
Sample Collection
The patient does not require fasting for this test. A genetic counseling session is mandatory before the test. During this session, the clinician will draw a three-generation pedigree and document family history. Please carry any prior medical records, muscle biopsy reports, MRI findings, and previous genetic test results if available.
Method: Venipuncture or Dried Blood Spot
Laboratory Analysis
For blood collection, a trained phlebotomist will draw a peripheral blood sample in an EDTA vacutainer. If using FTA card, one drop of blood from a finger prick is applied to the designated circle. For extracted DNA sample, the DNA should be provided in a sterile tube with a minimum concentration of 50 ng/µL and appropriate purity.
Report Delivery
No special precautions are required after blood collection. You may resume normal activities immediately. The sample will be transported to our NGS laboratory at ambient temperature or as per protocol. The report will be shared via email and the patient portal within 3 to 4 weeks.
Timeline: The turnaround time for this test is 3 to 4 weeks from the date the sample is received at the laboratory. In cases where segregation analysis or additional confirmatory testing is required, the report may be delayed by an additional 1 to 2 weeks.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic mutations in the COL12A1 gene that cause Bethlem myopathy type 2. This molecular confirmation helps in establishing an accurate diagnosis, enabling appropriate clinical management, providing recurrence-risk counseling for family members, and differentiating Bethlem myopathy type 2 from phenotypically overlapping neuromuscular disorders such as Ullrich congenital muscular dystrophy and other collagen VI-related myopathies.
How to Prepare
- Use an EDTA-containing sterile collection tube for whole blood
- Do not freeze whole blood; keep at room temperature if the sample reaches the lab within 72 hours
- If using FTA card, allow the blood spot to dry completely for at least 1 hour before sealing
- Extracted DNA samples must be labeled with the patient name and unique ID
- Send samples at ambient temperature with a cold pack if the courier duration exceeds 3 days
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"CLINICAL INSIGHT: Bethlem myopathy type 2 is an ultrarare collagen VI-related disorder. NGS-based sequencing of COL12A1 is the most efficient diagnostic approach when clinical presentation suggests a collagenopathy and COL6A1-3 genes have been ruled out or when the phenotype is atypical. This test should be interpreted in conjunction with clinical evaluation, muscle MRI, and creatine kinase levels."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolysed blood sample
- Unlabeled or mislabeled sample
- Blood collected in a heparin-containing tube
- Sample exposed to extreme heat or frozen whole blood
- Insufficient sample volume or DNA concentration
- FTA card not dried properly
Understanding Your Results
Confirms a molecular diagnosis of Bethlem myopathy type 2. Enables accurate genetic counseling, family screening, and prenatal diagnosis if desired.
Does not rule out Bethlem myopathy type 2 if clinical suspicion remains high. Consider alternative genes or non-genetic causes.
Additional familial segregation testing, RNA studies, or protein studies may help reclassify the variant.
Considered non-diagnostic for Bethlem myopathy type 2.
If you or your child have unexplained muscle weakness, joint contractures, or delayed motor development, consult a neurologist or geneticist. If a COL12A1 mutation is identified, seek regular follow-up with a neuromuscular specialist to monitor respiratory, cardiac, and orthopedic complications. Family members of an affected individual may also consult a clinical geneticist for cascade testing.
Limitations
- ⚠This test detects mutations in the COL12A1 gene only; mutations in other genes (e.g., COL6A1, COL6A2, COL6A3) will not be identified
- ⚠NGS may not reliably detect large genomic rearrangements, trinucleotide repeat expansions, or deep intronic variants
- ⚠Variants of uncertain significance (VUS) may require additional family segregation studies and functional analysis
- ⚠Mosaic variants at low allele fraction may be missed
- ⚠Negative results do not exclude a genetic cause for the patient's symptoms; further testing may be required
Risks & Considerations
- ●No significant physical risks are associated with blood collection. Minor bruising or discomfort at the venipuncture site may occur.
- ●Psychological impact of learning genetic test results, especially if a disease-causing mutation is identified
- ●Possible detection of a variant of uncertain significance which may create anxiety
- ●Incidental findings unrelated to the primary indication
Interfering Factors
- ●Presence of a hematological malignancy or recent blood transfusion can contaminate the DNA sample
- ●Bone marrow transplantation from a genetically different donor may produce a false-negative result
- ●DPA (DNA-poor sample) or degraded DNA from improper storage can reduce sequencing quality
- ●Clinical misclassification if the phenotype is atypical for Bethlem myopathy type 2
Compare With Similar Tests
| Test | COL12A1 Gene Bethlem Myopathy Type 2 NGS Genetic Test | COL6A1, COL6A2, COL6A3 Gene NGS Panel | Comprehensive Neuromuscular Disorder NGS Panel | Sanger Sequencing for COL12A1 | Chromosomal Microarray (CMA) |
|---|---|---|---|---|---|
| Comparison | COL12A1 Gene Bethlem Myopathy Type 2 NGS Genetic Test |
Frequently Asked Questions
What is Bethlem myopathy type 2?
Why is NGS used for this test?
What is the cost of the COL12A1 gene Bethlem myopathy type 2 NGS genetic test?
What sample is required for this test?
How long does it take to get results?
Can Bethlem myopathy type 2 be diagnosed before symptoms appear?
Does this test detect all types of Bethlem myopathy?
What does a negative result mean?
Is genetic counseling necessary before the test?
Can this test be done on an FTA card?
Are there any health risks from the test?
How is this test different from a regular neuromuscular panel?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.