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TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic Test

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TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic Test

Short Name: TTN HMERF NGS Genetic Test

Also known as: TTN Gene Sequence Analysis, HMERF Genetic Test, Titin Gene NGS Panel, Hereditary Myopathy Early Respiratory Failure Gene Test

TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / One drop of blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 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

To confirm or exclude mutations in the TTN gene associated with Hereditary Myopathy with Early Respiratory Failure (HMERF) in patients with clinical features or a family history of the disorder.

Test Code
4118
CPT Code
81479
Price
₹20,000
Sample Type
Blood / Extracted DNA / One drop of blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of patient who is going for TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic Test: A genetic counselling session to draw a pedigree chart of family members affected with TTN Gene Hereditary myopathy with early respiratory failure is required. No fasting is needed.

Method: Peripheral Blood Collection, FTA Card Blood Spot, or DNA Submission

Step 2

Laboratory Analysis

A small amount of blood (2–5 ml in EDTA tube) is drawn from a vein in the arm. If using FTA card, one drop of blood is applied on the card. Ensure sample is labelled correctly.

Step 3

Report Delivery

No special precautions are needed after sample collection. You may resume normal activities. The sample will be transported to the laboratory at ambient temperature.

Timeline: Reports are typically delivered within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Clinical history of patient who is going for TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic Test: A genetic counselling session to draw a pedigree chart of family members affected with TTN Gene Hereditary myopathy with early respiratory failure is required. No fasting is needed.
2
During the Test:The patient will provide a blood sample, FTA card spot, or extracted DNA. The procedure is simple and causes minimal discomfort.
3
After the Test:No recovery time is needed. The laboratory will process the sample and deliver reports within 3 to 4 weeks.

About This Test

Who Should Get This Test

To confirm or exclude mutations in the TTN gene associated with Hereditary Myopathy with Early Respiratory Failure (HMERF) in patients with clinical features or a family history of the disorder.

How to Prepare

  • Blood sample in EDTA vacutainer
  • Dried blood spot on FTA Card
  • Extracted DNA in a sterile DNA storage tube (if provided)
  • Avoid freezing whole blood

Doctor's Notes

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

"Genetic testing can support family planning decisions. If the result is positive, consult a clinical geneticist for reproductive options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One drop of blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA vacutainer / FTA Card / DNA vial
Collection MethodPeripheral Blood Collection, FTA Card Blood Spot, or DNA Submission

Sample Stability

Whole blood (EDTA): 48 to 72 hours at 2-8°C
FTA card: 6 months at room temperature
Extracted DNA: stable for 6 months at -20°C
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient quantity of sample
  • Mislabeled specimen
  • Sample contaminated with other biological material

Understanding Your Results

Interpretation of NGS results should be performed by a clinical geneticist. The report will state whether a pathogenic or likely pathogenic variant was identified. Variants of unknown significance are not considered diagnostic and may require further testing.
Positive result: A pathogenic or likely pathogenic variant in TTN is identified, confirming the molecular diagnosis of HMERF.
Negative result: No pathogenic variant was detected in the analysed regions. This does not exclude all genetic causes of myopathy.
Variant of uncertain significance (VUS): A variant was identified that is not yet classified. Additional testing in family members may be required.
Uninterpretable result: The test may not have sufficient quality for complete analysis.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member have symptoms of unexplained muscle weakness, respiratory insufficiency, head drop, or swallowing difficulty, or if you have a family history of confirmed TTN-related myopathy.

Limitations

  • ⚠This test is limited to the TTN gene; variants in other genes associated with congenital myopathies are not evaluated.
  • ⚠This NGS test does not detect all types of mutations such as large genomic deletions/duplications, deep intronic mutations or triplet repeat expansions.
  • ⚠Not a direct measure of protein function.
  • ⚠Result should be interpreted in context of clinical findings and family history.

Risks & Considerations

  • ●Minimal risk of bleeding or haematoma at the venipuncture site
  • ●Slight dizziness or fainting during blood collection
  • ●Psychological impact of unsolicited genetic findings

Interfering Factors

  • ●DNA contamination from another individual
  • ●Prior allogeneic bone marrow transplant
  • ●Incidental finding of variants of unknown significance (VUS)
  • ●Complex genes with pseudogenes may reduce effective coverage

Frequently Asked Questions

What is Hereditary Myopathy with Early Respiratory Failure?
HMERF is a rare genetic disorder caused by mutations in the TTN gene. It affects skeletal muscles and often causes respiratory muscle weakness leading to early-onset breathing failure.
What does the TTN gene do?
The TTN gene provides instructions for making titin, a giant protein that maintains the structural integrity and elasticity of muscle sarcomeres. Pathogenic variants in TTN disrupt muscle function.
Who should take this TTN NGS genetic test?
This test is recommended for individuals with symptoms of proximal muscle weakness, unexplained respiratory failure, head drop, or a family history of TTN-related myopathy. It is also useful for reproductive genetic counseling in affected families.
What is the cost of the TTN HMERF NGS test at DNA Labs India?
The test costs INR 20000, which includes genetic counseling, NGS testing, clinical report, and access to raw data files (FASTQ and VCF).
What type of sample is needed?
A blood sample collected in an EDTA tube, a dried blood spot on FTA card, or extracted DNA can be submitted for NGS analysis.
Is fasting required for this genetic test?
No, fasting is not required for the TTN gene NGS test.
How long will it take to get the report?
The turnaround time is approximately 3 to 4 weeks after the sample reaches the laboratory.
What will the test report include?
The report will include the tested regions, variant analysis, classification of variants (if any), clinical interpretation, and recommendations. Raw data files such as FASTQ and VCF are also provided for transparency.
What does a negative test result mean?
A negative result means no pathogenic or likely pathogenic variants were detected in the analyzed regions of the TTN gene. However, it cannot completely rule out a hereditary myopathy, as mutations in other genes or non-coding regions may be missed.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change whose effect on health is not yet known. If a VUS is reported, further testing of other family members may help reclassify it.
Can this test confirm a diagnosis of HMERF?
Yes, detection of a pathogenic or likely pathogenic variant in TTN in an individual with a compatible clinical picture confirms the diagnosis of HMERF.
Does DNA Labs India offer counseling before and after testing?
Yes, pre-test genetic counseling including pedigree analysis and post-test genetic counseling by trained clinicians is part of the testing service.
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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