TPM3 Gene Nemaline myopathy type 1 NGS Genetic Test
Short Name: TPM3 Gene NGS Genetic Test
Also known as: TPM3-related nemaline myopathy genetic test, Nemaline myopathy type 1 gene test, TPM3 gene sequencing NGS
TPM3 Gene Nemaline myopathy type 1 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 will be issued within 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 purpose of this test is to detect pathogenic or likely pathogenic variants in the TPM3 gene, which are associated with nemaline myopathy type 1, and to confirm the diagnosis in clinically suspected individuals.
- Test Code
- 4398
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results will be issued within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. A genetic counselling session is recommended before testing to obtain a detailed clinical history and draw a pedigree chart of family members affected with nemaline myopathy. Informed consent should be documented.
Method: Venous blood collection / FTA card blood spot / submitted extracted DNA
Laboratory Analysis
A trained phlebotomist will collect a small amount of venous blood. Alternatively, a few drops of blood may be placed on an FTA card. For those providing extracted DNA, the laboratory will confirm the required quantity and quality.
Report Delivery
You can return to normal routine immediately. The blood or FTA card sample is transported to the laboratory, and results will be available in 3 to 4 weeks.
Timeline: Results will be issued within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the TPM3 gene, which are associated with nemaline myopathy type 1, and to confirm the diagnosis in clinically suspected individuals.
How to Prepare
- No fasting required
- Blood can be collected in an EDTA tube
- FTA card blood spot can be used for home collection
- Bring valid identity proof and referral or clinical notes
- Genetic counseling and informed consent documentation are required
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"TPM3 genetic testing should be accompanied by detailed clinical and family history. Variant classification needs rigorous review before it is used for clinical decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled sample
- Incorrect or expired collection tube
- Insufficient blood volume or DNA quantity
- Visible sample leakage or contamination
- Mismatch between patient details and consent form
Understanding Your Results
Consult your neurologist or geneticist if the test result is positive, negative but symptoms persist, or shows a variant of uncertain significance. Seek urgent medical attention if breathing difficulty, feeding problems, or sudden worsening of muscle weakness occurs.
Limitations
- ⚠Standard NGS may not detect all variant types, such as large exon-level deletions or duplications
- ⚠Deep intronic and non-coding regulatory variants in TPM3 are not fully evaluated
- ⚠A negative result does not exclude nemaline myopathy caused by variants in other genes
- ⚠Variant of uncertain significance results may need additional family segregation analysis
- ⚠Variant interpretation can change as new scientific evidence becomes available
Risks & Considerations
- ●Mild pain or bruising at the venipuncture site
- ●Small risk of infection at the puncture site
Interfering Factors
- ●Poor quality or inadequate DNA from the submitted sample
- ●Sample contamination or incorrect sample labelling
- ●Incomplete clinical information or family history needed for interpretation
Frequently Asked Questions
What is TPM3 gene nemaline myopathy type 1?
How does the NGS genetic test detect TPM3 mutations?
Is fasting needed for this test?
Which sample types are accepted?
How long will the TPM3 genetic test report take?
What is the cost of the TPM3 gene NGS test at DNA Labs India?
What is a genetic counselling session before testing?
Will the report include raw data files?
What does a pathogenic or likely pathogenic result mean?
What does a negative result mean?
Can this test be used for prenatal diagnosis?
Is the test covered by health insurance?
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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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