DYSF Gene Miyoshi myopathy NGS Genetic Test
Short Name: DYSF Miyoshi Myopathy NGS Test
Also known as: DYSF Gene Mutation Analysis, Miyoshi Myopathy Genetic Testing, Dysferlin Gene Sequencing, DYSF NGS Test
DYSF Gene Miyoshi myopathy 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 delivered within 3 to 4 weeks after the sample reaches the lab.. 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 purpose of the DYSF Gene Miyoshi Myopathy NGS Genetic Test is to detect pathogenic mutations in the DYSF gene, thereby confirming a clinical diagnosis of Miyoshi myopathy or dysferlinopathy. It helps guide patient management, provides prognostic information, and enables accurate genetic counseling for affected families.
- Test Code
- 4333
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports will be delivered within 3 to 4 weeks after the sample reaches the lab.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient is required. A genetic counseling session will be conducted to draw a pedigree chart of family members affected with DYSF Gene Miyoshi myopathy disease. No fasting is required.
Method: Blood draw / FTA card spot
Laboratory Analysis
A blood sample is collected by venipuncture into an EDTA tube, or a few drops of blood are spotted on an FTA card. Alternatively, extracted DNA can be submitted.
Report Delivery
No specific precautions are required. Patients can resume normal activities immediately.
Timeline: Reports will be delivered within 3 to 4 weeks after the sample reaches the lab.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DYSF Gene Miyoshi Myopathy NGS Genetic Test is to detect pathogenic mutations in the DYSF gene, thereby confirming a clinical diagnosis of Miyoshi myopathy or dysferlinopathy. It helps guide patient management, provides prognostic information, and enables accurate genetic counseling for affected families.
How to Prepare
- Ensure the patient's clinical and family history is documented.
- Use EDTA tube for blood collection, or FTA card for blood spots.
- Label the sample with the patient's full name, date of birth, and unique ID.
- Samples are stable at ambient temperature for up to 48 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of Miyoshi myopathy is crucial for disease management and genetic counseling of the family. This NGS-based test provides accurate identification of DYSF gene mutations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood
- Insufficient sample volume
- Improperly labeled samples
- Samples received in wrong container
- Expired or improperly stored FTA cards
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of Miyoshi myopathy/dysferlinopathy.
Variants of uncertain significance (VUS)
Requires further evaluation with family segregation analysis and functional studies.
No pathogenic variant detected
Does not rule out Miyoshi myopathy; other genetic causes or diagnostic methods may be considered.
If you experience progressive muscle weakness, particularly in the calves, or have a family history of muscular dystrophy, consult a neurologist for evaluation. Elevated creatine kinase levels should also prompt further investigation.
Limitations
- ⚠NGS may not detect large deletions/duplications, deep intronic variants, or repeat expansions without additional testing.
- ⚠A negative result does not rule out other forms of muscular dystrophy.
- ⚠Variants of uncertain significance (VUS) may be reported; additional family studies may be required.
- ⚠Genetic testing is only part of the clinical diagnostic workup and should be correlated with clinical and biopsy findings.
Risks & Considerations
- ●Minimal risks include slight pain or bruising at the blood draw site.
- ●No other significant risks are associated with this genetic test.
Interfering Factors
- ●Recent allogeneic bone marrow transplantation (due to donor DNA)
- ●Contamination of sample with exogenous DNA
- ●Maternal cell contamination in prenatal samples
- ●Insufficient sample quantity or poor DNA quality
Compare With Similar Tests
| Test | DYSF Gene Miyoshi myopathy NGS Genetic Test | ||
|---|---|---|---|
| Comparison | DYSF Gene Miyoshi myopathy NGS Genetic Test |
Frequently Asked Questions
What is the cost of the DYSF Gene Miyoshi Myopathy NGS Genetic Test?
What is Miyoshi myopathy?
What is the role of the DYSF gene?
What is the sample type required for this test?
Is fasting required before the test?
How will I receive my reports?
What is the sensitivity of NGS for DYSF mutation detection?
Can this test be used for carrier testing?
What does a negative result mean?
Why is a genetic counseling session required?
Are home sample collection services available?
Is this test prescribed only by neurologists?
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