TPM2 Gene Nemaline myopathy type 4 NGS Genetic Test
Short Name: TPM2 NGS Genetic Test
Also known as: TPM2 Gene Mutation Analysis, Nemaline Myopathy Type 4 Genetic Test, TPM2 Gene Sequencing, TPM2-Related Myopathy NGS Test
TPM2 Gene Nemaline myopathy type 4 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 usually released within 3 to 4 weeks after the sample reaches the laboratory and passes quality control.. 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 NGS genetic test is to detect clinically significant variants in the TPM2 gene and provide molecular confirmation of Nemaline Myopathy Type 4.
- Test Code
- 4395
- CPT Code
- Not Applicable
- ICD Code
- G71.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually released within 3 to 4 weeks after the sample reaches the laboratory and passes quality control.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A pre-test genetic counselling session is recommended to document clinical history, draw a pedigree chart, and obtain informed consent. No fasting is required.
Method: Venipuncture / Dried blood spot / DNA submission
Laboratory Analysis
A small blood sample is collected by venipuncture, or a dried blood spot is placed on the FTA card as applicable. The sample is labelled and prepared for transport.
Report Delivery
The sample is transported to the laboratory under appropriate conditions. After NGS sequencing and clinical review, the report and raw data files are shared with the patient.
Timeline: Reports are usually released within 3 to 4 weeks after the sample reaches the laboratory and passes quality control.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect clinically significant variants in the TPM2 gene and provide molecular confirmation of Nemaline Myopathy Type 4.
How to Prepare
- Complete genetic counselling before sample collection
- No fasting needed
- Bring previous neurology reports and family history documents
- For FTA card, ensure blood spot is dry before sealing in the bag
- Label sample with patient name, date of birth and collection date
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A confirmed pathogenic variant in TPM2 is clinically significant and should be followed by structured genetic counselling to discuss inheritance, family testing, and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted whole blood sample
- Insufficient DNA quantity or concentration
- Sample with incorrect or missing labelling
- Wet, contaminated, or severely degraded FTA card specimen
- Sample not accompanied by required clinical details or consent
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant was detected in the TPM2 gene. Clinical correlation is advised, and other genetic causes may be considered if symptoms persist.
Positive
A pathogenic or likely pathogenic variant was identified in TPM2. This confirms a molecular diagnosis of TPM2-related Nemaline Myopathy Type 4 in the appropriate clinical context.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is not yet clear. Additional family testing or further evaluation may be needed to clarify the result.
If the patient has symptoms of muscle weakness, respiratory difficulty, or developmental delay, or if the test result is positive or uncertain, consult a neurologist or clinical geneticist for management and counselling.
Limitations
- ⚠This test analyzes the TPM2 gene only and does not evaluate other genes associated with nemaline myopathy
- ⚠Standard NGS may not reliably detect large structural rearrangements unless dedicated bioinformatics analysis is performed
- ⚠Variants of uncertain significance may require additional family studies or functional evaluation
- ⚠A negative result does not completely exclude the possibility of a genetic cause not detectable by current sequencing methods
Risks & Considerations
- ●Minimal pain or bruising at the venipuncture site
- ●Very small risk of infection at the blood collection site
- ●No physical risk from the genetic testing itself
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Sample transported outside recommended temperature range
- ●Insufficient quantity of extracted DNA
- ●FTA card stored in humid or wet condition
- ●Recent allogeneic bone marrow transplant can affect genetic testing results
Compare With Similar Tests
| Test | TPM2 Gene Nemaline myopathy type 4 NGS Genetic Test | TPM2 Gene NGS Genetic Test | Sanger Sequencing for Familial Variant | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | TPM2 Gene Nemaline myopathy type 4 NGS Genetic Test |
Frequently Asked Questions
What is Nemaline Myopathy Type 4?
How does the TPM2 gene cause Nemaline Myopathy?
What is an NGS genetic test?
What are the symptoms of Nemaline Myopathy Type 4?
How is Nemaline Myopathy Type 4 diagnosed?
What is the cost of the TPM2 gene NGS genetic test?
What type of sample is accepted for this test?
Is fasting required before sample collection?
When will I get the report?
Will I receive raw data files with the report?
Why is genetic counselling important before testing?
Can this test help with reproductive planning?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.