DYSF Gene Myopathy, distal with anterior tibial onset NGS Genetic Test
Short Name: DYSF NGS Genetic Test
Also known as: Dysferlinopathy NGS Test, DYSF Mutation Analysis, Distal Myopathy with Anterior Tibial Onset Genetic Test, Limb Girdle Muscular Dystrophy Type 2B/R2 Genetic Test
DYSF Gene Myopathy, distal with anterior tibial onset 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 Results are generally available within 3 to 4 weeks after the sample reaches the laboratory. In some cases, additional validation may extend the turnaround.. 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 purpose of the DYSF gene NGS genetic test is to identify disease-causing mutations in the DYSF gene, confirm the clinical diagnosis of distal myopathy with anterior tibial onset, differentiate it from other myopathies, and allow assessment of recurrence risk for the family. Genetic testing also provides information for future reproductive decisions and enables eligibility for emerging therapies.
- Test Code
- 4375
- CPT Code
- 81406
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are generally available within 3 to 4 weeks after the sample reaches the laboratory. In some cases, additional validation may extend the turnaround.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The patient should provide a detailed clinical history and, if possible, a family pedigree. A genetic counselling session is recommended before the test to discuss the implications of the results.
Method: Blood draw / FTA card spot
Laboratory Analysis
A blood sample (around 2 ml) will be collected in an EDTA vacutainer. Alternatively, the laboratory may accept extracted DNA or one drop of blood on an FTA card. The procedure is quick and routine.
Report Delivery
No special precautions are needed after sample collection. Patients may resume normal diet and activities immediately.
Timeline: Results are generally available within 3 to 4 weeks after the sample reaches the laboratory. In some cases, additional validation may extend the turnaround.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DYSF gene NGS genetic test is to identify disease-causing mutations in the DYSF gene, confirm the clinical diagnosis of distal myopathy with anterior tibial onset, differentiate it from other myopathies, and allow assessment of recurrence risk for the family. Genetic testing also provides information for future reproductive decisions and enables eligibility for emerging therapies.
How to Prepare
- Ensure the preferred sample type is provided: EDTA blood, extracted DNA, or FTA blood spot.
- Use barcoded labels and fill out the requisition form completely.
- Keep the sample at room temperature if delivered within 24 hours; otherwise, refrigerate.
- Do not freeze unprocessed whole blood.
- For FTA cards, let the spot dry completely before packaging.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"For patients with suspected inherited myopathy, a comprehensive NGS panel can identify the genetic basis and enable accurate genetic counselling. This test for DYSF-related disorders is essential for confirming the diagnosis and offering carrier/family planning guidance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample tube without proper label or patient identification
- Clotted or haemolysed blood sample
- Insufficient volume of sample
- FTA card that is wet, contaminated, or not dried
- Samples received more than 72 hours after collection without appropriate storage
Understanding Your Results
Pathogenic
The variant is disease-causing and confirms the diagnosis of DYSF-related myopathy.
Action: Refer for genetic counselling and clinical management.
Likely Pathogenic
The variant is highly likely to cause disease, though definitive evidence may still emerge.
Action: Consider family segregation studies and clinical correlation.
Variant of Uncertain Significance (VUS)
Insufficient evidence to determine pathogenicity at the time of reporting.
Action: Further testing of affected relatives and functional studies may be needed.
Likely Benign / Benign
The variant is unlikely to cause disease.
Action: No clinical action based on this variant; evaluate other causes.
Consult a neurologist or clinical geneticist if you have persistent lower-limb weakness, unexplained falls, elevated CK, or a family history of muscular dystrophy. Early genetic diagnosis can guide treatment and surveillance.
Limitations
- ⚠NGS may not detect large deletions, duplications, or complex rearrangements in the DYSF gene
- ⚠Deep intronic variants outside of standard analytical regions are not reliably covered
- ⚠Repeat expansions or mitochondrial genome variants will not be identified by this test
- ⚠Variant interpretation may be inconclusive and require additional family studies
Risks & Considerations
- ●Bruising at the puncture site
- ●Dizziness due to needle phobia (fainting)
- ●Emotional distress from learning a positive result
Interfering Factors
- ●Insufficient quantity of DNA due to poor sample collection
- ●DNA degradation from repeated freeze-thaw cycles
- ●Contamination with maternal DNA in prenatal samples
- ●Presence of haematopoietic chimerism or prior bone marrow transplant
- ●Recent allogeneic blood transfusion may affect DNA extracted from blood
Compare With Similar Tests
| Test | DYSF Gene Myopathy, distal with anterior tibial onset NGS Genetic Test | Targeted Single Gene DYSF Sequencing | Multigene Myopathy NGS Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | DYSF Gene Myopathy, distal with anterior tibial onset NGS Genetic Test |
Frequently Asked Questions
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