MYH2 Gene Inclusion body myopathy NGS Genetic Test
Short Name: MYH2 IBM NGS Genetic Test
Also known as: MYH2-related inclusion body myopathy genetic test, Hereditary inclusion body myopathy NGS test, MYH2 gene mutation analysis
MYH2 Gene Inclusion body 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 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
The test is used to identify disease-causing variants in the MYH2 gene and to support the clinical diagnosis of inclusion body myopathy in patients with compatible signs and symptoms.
- Test Code
- 4152
- 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
A genetic counselling session is recommended to draw a pedigree chart of affected family members and to discuss the benefits, risks, and limitations of NGS testing.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A standard venipuncture or FTA card blood spot sample is collected. No sedation or anesthesia is required.
Report Delivery
No specific post-collection precautions are needed. The sample is sent to the laboratory for DNA extraction and next-generation sequencing.
Timeline: 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The test is used to identify disease-causing variants in the MYH2 gene and to support the clinical diagnosis of inclusion body myopathy in patients with compatible signs and symptoms.
How to Prepare
- No fasting is required
- EDTA whole blood: 2-3 mL; extracted DNA: 1-2 µg; FTA card: one blood spot
- Complete the requisition form with clinical history and family pedigree
- Sample should be clearly labelled with patient name, date of birth, and collection date
- Whole blood should be stored at 2-8°C until shipment; FTA card must be dried at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling is essential in hereditary myopathies. Testing should be performed after a detailed family history and with informed consent, and result interpretation should include familial segregation when a variant of uncertain significance is found."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Sample without proper labeling
- Insufficient sample quantity or DNA concentration
- Non-viable or wet FTA card
- Missing clinical history or family pedigree
Understanding Your Results
No pathogenic variant detected
No disease-causing MYH2 variant was found; clinical diagnosis should be re-evaluated and other genes considered.
Pathogenic variant detected
Identified variant is known to cause disease; genetic counselling and cascade testing for at-risk relatives are recommended.
Variant of uncertain significance (VUS)
A variant was found but its effect is unknown; additional testing in family members may help determine significance.
Consult a neurologist or clinical geneticist if you or a family member experience progressive muscle weakness, difficulty in climbing stairs or rising from a chair, swallowing difficulties, or speech problems, particularly if there is a family history of inclusion body myopathy.
Limitations
- ⚠Targeted NGS does not detect large gene rearrangements, trinucleotide repeats, or epigenetic changes
- ⚠Variant of uncertain significance may require family segregation studies
- ⚠Negative result does not exclude other genetic causes of inclusion body myopathy
- ⚠Results should be interpreted by a clinical geneticist in the context of clinical findings
Risks & Considerations
- ●Minor pain, bruising, or bleeding at the venipuncture site
- ●Psychological or emotional impact of a genetic result
- ●Possible identification of a variant of uncertain significance
Interfering Factors
- ●Variants in non-coding regulatory regions may not be captured by targeted NGS
- ●Regions with extremely high GC content may reduce sequencing depth
- ●Contamination during sample collection or processing can affect results
- ●Incorrect sample labeling or incomplete clinical history may cause misinterpretation
Frequently Asked Questions
What is the MYH2 gene inclusion body myopathy NGS genetic test?
Which sample is needed for this test?
Is fasting required before the test?
How much does the test cost at DNA Labs India?
What is the turnaround time for the report?
What conditions can be detected by this test?
Can MYH2-related myopathy be diagnosed by clinical examination alone?
What does a negative result mean?
What does a positive result mean?
What is a variant of uncertain significance (VUS)?
Will DNA Labs India provide raw data files?
How can I book the test?
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