MYH7 Gene Scapuloperoneal myopathy, MYH7 related NGS Genetic Test
Short Name: MYH7 NGS Genetic Test
Also known as: MYH7 gene mutation test, Scapuloperoneal myopathy genetic test, Beta myosin heavy chain gene NGS, MYH7 related myopathy DNA test
MYH7 Gene Scapuloperoneal myopathy, MYH7 related 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 are issued within 3 to 4 weeks after the sample reaches the laboratory. Additional time may be needed for repeat testing or follow-up of variants of uncertain significance.. 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 this test is to confirm the molecular diagnosis of scapuloperoneal myopathy by detecting pathogenic variants in the MYH7 gene. It helps differentiate MYH7-related myopathy from other neuromuscular disorders, enables familial cascade testing, and supports informed genetic counselling.
- Test Code
- 4493
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks after the sample reaches the laboratory. Additional time may be needed for repeat testing or follow-up of variants of uncertain significance.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A prior genetic counselling session is recommended to obtain family history, draw a pedigree, and explain the implications of testing. No fasting or dietary preparation is required.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
A small volume of peripheral blood is drawn by a trained phlebotomist, or an FTA card spot is prepared. The procedure takes only a few minutes.
Report Delivery
You can return to normal activities. The sample is transported to DNA Labs India under controlled conditions. Reports will be shared online, by email, or WhatsApp.
Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory. Additional time may be needed for repeat testing or follow-up of variants of uncertain significance.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm the molecular diagnosis of scapuloperoneal myopathy by detecting pathogenic variants in the MYH7 gene. It helps differentiate MYH7-related myopathy from other neuromuscular disorders, enables familial cascade testing, and supports informed genetic counselling.
How to Prepare
- Blood sample should be collected in an EDTA vacutainer
- If FTA card is used, apply one blood spot and allow it to dry completely
- The sample must be labelled with the patient's full name, date of birth, and collection date
- Transport the sample at room temperature to the laboratory
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"A confirmed molecular diagnosis of MYH7-related scapuloperoneal myopathy helps to guide cardiac surveillance, family counselling, and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Sample in a heparin tube or inappropriate anticoagulant
- Unlabelled sample or mismatch with patient details
- Sample received after prolonged transport without appropriate packaging
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant detected in MYH7. Other myopathy genes should be considered if clinical suspicion is high.
Positive
Pathogenic or likely pathogenic variant detected in MYH7. This confirms the molecular diagnosis of MYH7-related scapuloperoneal myopathy.
Variant of uncertain significance
A DNA change was detected but there is insufficient evidence to determine pathogenicity. Family segregation studies and further evaluation are recommended.
Consult a neurologist or clinical geneticist if there is progressive muscle weakness, scapular winging, foot drop, frequent falls, difficulty climbing stairs, or any family history of myopathy or cardiomyopathy.
Limitations
- ⚠This is a single-gene NGS test; a negative result does not exclude other genetic causes of myopathy
- ⚠Standard NGS may not detect large deletions, duplications, or complex structural rearrangements unless additional analysis is performed
- ⚠Deep intronic variants or mitochondrial genome variants are not covered by this test
- ⚠Variants of uncertain significance may require family segregation studies
Risks & Considerations
- ●Minimal pain or bruising at the puncture site
- ●Very low risk of infection
- ●No fasting, sedation, or significant risk associated with this test
Interfering Factors
- ●Inadequate DNA quality due to prolonged transport
- ●Contamination of sample with another individual's DNA
- ●Recent allogeneic bone marrow transplant or blood transfusion can affect germline variant testing
- ●Presence of pseudogenes or highly homologous sequences may reduce assay sensitivity in certain regions
Compare With Similar Tests
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| Comparison | MYH7 Gene Scapuloperoneal myopathy, MYH7 related NGS Genetic Test |
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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.
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