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TNNT1 Gene Nemaline myopathy type 5 NGS Genetic Test

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TNNT1 Gene Nemaline myopathy type 5 NGS Genetic Test

Short Name: TNNT1 NEM5 NGS Test

Also known as: TNNT1 Gene Test, Nemaline Myopathy Type 5 NGS Test, NEM5 Genetic Test, Troponin T Type 1 Gene Sequencing

TNNT1 Gene Nemaline myopathy type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation on Blood, Extracted DNA, or one drop blood on FTA card samples. Results in Results are generally available within 21 to 28 days (3 to 4 weeks) after the sample is received at the lab.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm or rule out a molecular diagnosis of Nemaline Myopathy Type 5 by detecting disease-causing variants in the TNNT1 gene. It supports clinicians in establishing prognosis, guiding management, offering accurate recurrence risk, and enabling family testing or prenatal counseling options.

Test Code
4400
ICD Code
G71.2
Price
₹20,000
Sample Type
Blood, Extracted DNA, or one drop blood on FTA card
Result Time
Results are generally available within 21 to 28 days (3 to 4 weeks) after the sample is received at the lab.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation
Step 1

Sample Collection

No special preparation is needed. Patients should bring any previous medical records, EMG/NCS reports, muscle biopsy reports, and a complete family history if available. Genetic counselling is recommended before testing.

Method: Peripheral blood draw; FTA card spot; DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will draw blood from a vein in the arm using a sterile needle. If using FTA card, a drop of blood from a finger-prick is applied to the card. The procedure takes only a few minutes.

Step 3

Report Delivery

The sample is sent to the laboratory. There are no physical restrictions. Patients should wait for the report and consult their doctor for interpretation. Genetic counselling may be advised after results.

Timeline: Results are generally available within 21 to 28 days (3 to 4 weeks) after the sample is received at the lab.

Patient Instructions

1
Before the Test:No fasting required. Genetic counselling and detailed clinical history are important before testing.
2
During the Test:A simple blood draw or FTA card sample collection is performed. No sedation or anesthesia is needed.
3
After the Test:The sample is processed at the lab. Reports are shared in 3 to 4 weeks. A genetic counselor or physician will explain the results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or rule out a molecular diagnosis of Nemaline Myopathy Type 5 by detecting disease-causing variants in the TNNT1 gene. It supports clinicians in establishing prognosis, guiding management, offering accurate recurrence risk, and enabling family testing or prenatal counseling options.

How to Prepare

  • No fasting is required.
  • Use an EDTA vacutainer for blood collection.
  • FTA card spot is acceptable.
  • Provide complete clinical history and family pedigree.
  • Ensure proper labeling of the patient sample.
  • Do not mix samples from different patients.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for NEM5 should be ordered after detailed clinical and neurological assessment. A positive result allows precise family counseling and prenatal/preimplantation options. A negative result with high clinical suspicion may need a broader gene panel or muscle biopsy review."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or one drop blood on FTA card
Sample Volume2 mL whole blood; 1 saturated spot on FTA card; 2-5 µg genomic DNA
ContainerEDTA vacutainer; FTA card; cryovial with extracted DNA
Collection MethodPeripheral blood draw; FTA card spot; DNA submission

Sample Stability

Whole blood (EDTA): 72 hours at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: 6 months at room temperature (15-25°C)
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Non-EDTA anticoagulant tube
  • Incorrectly labelled or unlabelled sample
  • Sample received in expired collection tube
  • No clinical history or consent provided

Understanding Your Results

The result of the TNNT1 NGS test should be interpreted by a clinical geneticist or treating doctor in the context of the patient’s symptoms, family history, muscle biopsy findings, and other laboratory data. This test is not intended for standalone diagnostic use.
📊

Negative / No pathogenic variant

No disease-causing variant was identified in the TNNT1 gene. This does not entirely rule out NEM5; variants in other genes such as NEB, ACTA1, or TPM3 may be responsible. A broader neuromuscular gene panel may be considered.

📊

Positive / Pathogenic variant detected

A disease-causing variant in TNNT1 was identified. In the appropriate clinical context, this confirms the diagnosis of Nemaline Myopathy Type 5. Genetic counseling, family testing, and reproductive planning discussions are recommended.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found, but its effect on health is not yet known. Additional family segregation studies, clinical correlation, or functional studies may be required to determine its significance.

⚠️ When to Consult a Doctor:

If the result is positive, or if you or your child have progressive muscle weakness, hypotonia, breathing or swallowing difficulties, scoliosis, or a known family history of NEM5, consult a neurologist, clinical geneticist, or obstetrician for genetic counseling and management.

Limitations

  • ⚠This test detects variants in the coding exons and intron-exon boundaries of TNNT1 only.
  • ⚠It may not detect large gene rearrangements, deep intronic variants, promoter variants, or trinucleotide repeat expansions.
  • ⚠Variants of uncertain significance (VUS) may be reported; additional family studies may be required.
  • ⚠A negative result does not exclude NEM5 caused by variants in other genes.
  • ⚠Results must be interpreted in clinical context by a qualified geneticist or treating physician.

Risks & Considerations

  • ●Minimal pain, bruising, or bleeding at the needle site
  • ●Rare risk of infection or hematoma
  • ●Emotional or psychological impact of genetic results

Interfering Factors

  • ●Maternal cell contamination in prenatal samples
  • ●Mislabeled or swapped samples
  • ●Incomplete coverage due to repetitive regions or low DNA quality
  • ●Recent blood transfusion (can affect DNA extraction from leukocytes)
  • ●Somatic mosaicism may not be detected

Compare With Similar Tests

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Frequently Asked Questions

What is the TNNT1 Gene Nemaline Myopathy Type 5 NGS test?
This is a next-generation sequencing test that analyzes the TNNT1 gene to identify mutations that cause Nemaline Myopathy Type 5 (NEM5). It costs Rs 20,000 and includes home sample collection.
How much does the test cost at DNA Labs India?
The cost is Rs 20,000 (INR 20000). This includes home sample collection, NGS analysis, Sanger confirmation, clinical report, and raw data files.
What sample is required for this test?
The test can be done on 2 mL blood in an EDTA tube, extracted DNA, or one drop of blood applied on an FTA card.
Do I need to fast before this genetic test?
No, fasting is not required. You can eat and drink as usual before sample collection.
How long will my report take?
The report is generally prepared within 3 to 4 weeks (21-28 days) after the sample is received by the laboratory.
Will I receive raw data files with my report?
Yes, DNA Labs India is transparent and shares raw data files such as FASTQ and VCF along with the conclusive clinical report. This is a unique benefit for patients and researchers.
Which disease does this TNNT1 NGS test detect?
It detects mutations in the TNNT1 gene that cause Nemaline Myopathy Type 5 (NEM5), a rare inherited neuromuscular disease with muscle weakness, respiratory problems, and scoliosis.
Who should get this test done?
This test is recommended for patients with symptoms of congenital myopathy, unexplained muscle weakness, breathing/swallowing difficulties, a family history of NEM5, or for prenatal/preconception planning in affected families.
Can this test be performed during pregnancy?
Prenatal testing requires detailed genetic counseling and is done only when medically indicated. A clinical geneticist and obstetrician will decide if invasive sampling such as amniocentesis or CVS is appropriate.
Is this test covered by insurance or government schemes?
NGS genetic tests are usually not covered under PMJAY, CGHS, ECHS, or ESIC. Private insurance coverage depends on the policy and medical indication. You should check with your insurer before booking.
What does a negative result mean?
A negative result means no pathogenic variant was found in TNNT1. It reduces the likelihood of NEM5 due to TNNT1 mutations, but does not exclude other types of nemaline myopathy caused by different genes.
What happens if a variant of uncertain significance is found?
If a VUS is detected, the clinical report will mention it. Definitive interpretation may require testing of other family members, segregation analysis, or additional functional studies. Genetic counseling is strongly advised.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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