TTN Gene Myopathy, early-onset with fatal cardiomyopathy NGS Genetic Test
Short Name: TTN Myopathy NGS Test
Also known as: TTN Gene Sequencing Test, Titin Gene Mutation Test, Early-Onset Fatal Cardiomyopathy Genetic Test, TTN-Related Myopathy NGS Panel
TTN Gene Myopathy, early-onset with fatal cardiomyopathy 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 delivered within 3 to 4 weeks after the sample is received at the DNA Labs India 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
To identify disease-causing variants in the TTN gene associated with early-onset myopathy and fatal cardiomyopathy, to confirm the clinical diagnosis, and to support genetic counselling, cascade testing, and cardiac surveillance in affected families.
- Test Code
- 4379
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample is received at the DNA Labs India laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry a valid ID, doctor's prescription, and relevant medical records. A pre-test genetic counselling session is recommended to draw a pedigree and discuss the implications of the test.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a small blood sample from a vein in the arm using a sterile EDTA tube, or a few drops of blood may be collected on an FTA card. The procedure is quick and routine.
Report Delivery
You may resume normal activities immediately. If blood was drawn, keep pressure on the puncture site for a few minutes. The sample will be transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after the sample is received at the DNA Labs India laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify disease-causing variants in the TTN gene associated with early-onset myopathy and fatal cardiomyopathy, to confirm the clinical diagnosis, and to support genetic counselling, cascade testing, and cardiac surveillance in affected families.
How to Prepare
- For FTA card, let the blood spot air dry completely before packing
- Use an EDTA vacutainer; do not use heparin or clotted blood for NGS
- Label the sample clearly with patient name, date, and time of collection
- Transport the sample to the laboratory within 24-48 hours at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"TTN gene variants can present with diagnostic uncertainty. A multidisciplinary approach involving geneticists, neurologists, and cardiologists is essential for accurate interpretation and timely family screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, hemolyzed, or frozen whole blood sample
- Incorrectly labeled or unlabeled sample
- Wet, smudged, or contaminated FTA card
- Sample received without clinical history or consent form
Understanding Your Results
No pathogenic/likely pathogenic variant identified
No evidence of a TTN-related genetic cause was found in this test.
Action: Clinical correlation advised; consider broader genetic testing if symptoms are strongly suggestive.
Pathogenic variant detected
The test confirms a genetic diagnosis of TTN-related myopathy/cardiomyopathy.
Action: Cascade screening of at-risk family members and cardiac surveillance recommended.
Likely pathogenic variant detected
The variant is highly likely to be disease-causing based on current evidence.
Action: Clinical correlation and family segregation studies should be considered.
Variant of uncertain significance (VUS) detected
The clinical significance of the variant is currently unknown.
Action: Further family testing, segregation analysis, or functional studies may help clarify its role.
Consult a neurologist, cardiologist, or clinical geneticist if you or your child has unexplained muscle weakness, cardiomyopathy, arrhythmia, swallowing/breathing difficulty, or a family history of early-onset myopathy or sudden cardiac death.
Limitations
- ⚠This test is targeted to the TTN gene and does not evaluate all myopathy or cardiomyopathy genes
- ⚠Large structural rearrangements, deep intronic variants, and some large deletions/duplications may not be reliably detected by standard NGS
- ⚠A variant of uncertain significance (VUS) may require additional family segregation studies
- ⚠A negative result does not exclude a genetic cause; clinical correlation is essential
Risks & Considerations
- ●Minor pain, bruising, or bleeding at the venipuncture site
- ●Dizziness or fainting during blood collection
- ●Psychological impact of a genetic diagnosis on the patient and family
- ●A VUS result may create uncertainty and require additional family testing
Interfering Factors
- ●Poor-quality DNA from hemolyzed, clotted, or degraded blood samples
- ●Sample mix-up or incorrect labeling
- ●Rare sequencing alignment errors in repetitive titin gene regions
- ●Variants located in non-sequenced regulatory regions may not be detected
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Frequently Asked Questions
What is the cost of the TTN Gene Myopathy NGS Genetic Test at DNA Labs India?
What does the TTN gene do?
Who should take this TTN gene NGS genetic test?
Is fasting required before the test?
What sample is required for this NGS genetic test?
How long does it take to get the report?
Will I receive raw data along with the clinical report?
What health conditions are linked to TTN gene mutations?
Can a negative TTN test rule out inherited myopathy?
Are there any risks in taking this test?
Is this genetic test covered by health insurance?
Can this test be done for children?
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