POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 NGS Genetic Test
Short Name: POMT2 NGS Genetic Test
Also known as: POMT2 Muscular Dystrophy-Dystroglycanopathy NGS Test, Limb-Girdle Muscular Dystrophy Type C2 POMT2 Genetic Test, POMT2 Gene Mutation Analysis
POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 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 3 to 4 weeks after the sample reaches the laboratory. 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
To detect disease-causing variants in the POMT2 gene, confirm the molecular diagnosis of muscular dystrophy-dystroglycanopathy (limb-girdle), type C2, guide clinical management, and provide recurrence risk information for affected families.
- Test Code
- 4378
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after 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 before testing to draw a pedigree chart and discuss the clinical history of the patient and family members.
Method: Peripheral blood collection or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a small amount of peripheral blood in an EDTA tube, or spot one drop of blood on an FTA card. The procedure is non-invasive and takes only a few minutes.
Report Delivery
No special precautions are needed. The sample is transported to the laboratory at ambient temperature for DNA extraction, NGS sequencing, and clinical interpretation.
Timeline: 3 to 4 weeks after the sample reaches the laboratory
Patient Instructions
About This Test
Who Should Get This Test
To detect disease-causing variants in the POMT2 gene, confirm the molecular diagnosis of muscular dystrophy-dystroglycanopathy (limb-girdle), type C2, guide clinical management, and provide recurrence risk information for affected families.
How to Prepare
- No fasting is required for this DNA test.
- Bring all prior clinical records, serum CK levels, MRI reports, muscle biopsy reports and family history details.
- If providing extracted DNA, use a sterile, labeled DNA tube.
- For home collection, keep the appointment scheduled by DNA Labs India.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Molecular testing should be performed after informed consent and pre-test counseling; the result should always be interpreted in the context of clinical symptoms and family history."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labeled or unlabeled samples
- Frozen whole blood samples that show hemolysis
- Samples received in wrong or non-sterile containers
- Sample degradation due to prolonged transport at high temperature
Understanding Your Results
The test supports a molecular diagnosis of POMT2-related muscular dystrophy-dystroglycanopathy and enables targeted testing of family members.
Result type: Positive - Pathogenic or Likely Pathogenic variant
This does not rule out clinical disease; other genetic or acquired causes should be considered after expert evaluation.
Result type: Negative - No pathogenic variant detected
The clinical significance of the detected variant is not yet understood. Additional family studies or functional analysis may be recommended.
Result type: Variant of Uncertain Significance (VUS)
See a doctor or genetic counselor if you or a family member have progressive proximal muscle weakness, difficulty climbing stairs, frequent falls, waddling gait, high CK, or a known family history of POMT2-related limb-girdle muscular dystrophy.
Limitations
- ⚠This NGS test targets the POMT2 gene only and does not analyze all other genes associated with limb-girdle muscular dystrophy.
- ⚠Deep intronic, regulatory, large structural variants and mitochondrial variants may not be reliably detected.
- ⚠Variants of uncertain significance may require additional family segregation studies.
- ⚠A negative result does not completely exclude a clinical diagnosis of muscular dystrophy.
Risks & Considerations
- ●Minimal risk of bruising or infection at the venipuncture site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential implications for blood relatives and family planning decisions
Interfering Factors
- ●Recent bone marrow transplant or allogeneic stem cell transplant
- ●Blood transfusion within the past week
- ●Low DNA quality or sample degradation
- ●Laboratory contamination during DNA extraction
Compare With Similar Tests
| Test | POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 NGS Genetic Test |
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