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TPM1 Gene Cardiomyopathy, familial hypertrophic type 3 NGS Genetic Test

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TPM1 Gene Cardiomyopathy, familial hypertrophic type 3 NGS Genetic Test

Short Name: TPM1 Gene Cardiomyopathy Test

Also known as: TPM1 Gene Test, Hypertrophic Cardiomyopathy Genetic Test, FHC Type 3 Test

TPM1 Gene Cardiomyopathy, familial hypertrophic type 3 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 3 to 4 weeks. Free home collection in 300+ cities across India.

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 detect mutations in the TPM1 gene associated with familial hypertrophic cardiomyopathy type 3, enabling accurate diagnosis, risk stratification, and guidance for treatment and family screening.

Test Code
5234
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of patient who is going for TPM1 Gene Cardiomyopathy, familial hypertrophic type 3 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TPM1 Gene Cardiomyopathy.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture; minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; monitor for any adverse effects.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment to determine test appropriateness.
2
During the Test:Blood sample collection via venipuncture; procedure takes about 10-15 minutes.
3
After the Test:Results reviewed by a geneticist; follow-up counseling to discuss implications and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the TPM1 gene associated with familial hypertrophic cardiomyopathy type 3, enabling accurate diagnosis, risk stratification, and guidance for treatment and family screening.

How to Prepare

  • Fasting is not required
  • Provide detailed clinical and family history
  • Genetic counseling session recommended prior to testing
  • Ensure sample is properly labeled and transported

Doctor's Notes

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

"This NGS test is essential for identifying TPM1 gene mutations, enabling early intervention and family screening for hypertrophic cardiomyopathy."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample
  • Sample older than stability period

Understanding Your Results

Results from this NGS test indicate whether pathogenic mutations in the TPM1 gene are detected. Positive results confirm genetic predisposition to familial hypertrophic cardiomyopathy type 3, while negative results may require further clinical evaluation.
Positive: Pathogenic or likely pathogenic mutation detected in TPM1 gene, associated with increased risk of cardiomyopathy.
Negative: No pathogenic mutation detected in TPM1 gene, but clinical correlation with symptoms and family history is advised.
Variant of Uncertain Significance (VUS): Genetic variant identified but clinical significance unclear; further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a cardiologist or geneticist if you experience symptoms like chest pain, shortness of breath, or fainting, or if you have a family history of hypertrophic cardiomyopathy, for appropriate testing and management.

Limitations

  • ⚠May not detect all genetic variants or mutations in other genes
  • ⚠Requires interpretation by a qualified genetic counselor
  • ⚠Results may have psychological and familial implications
  • ⚠Does not replace clinical diagnosis

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results on patient and family

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Technical errors in sequencing
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestTPM1 Gene Cardiomyopathy, familial hypertrophic type 3 NGS Genetic TestECGEchocardiogramCardiac MRIGenetic Testing (NGS)
ComparisonTPM1 Gene Cardiomyopathy, familial hypertrophic type 3 NGS Genetic Test

Frequently Asked Questions

What is TPM1 gene cardiomyopathy?
TPM1 gene cardiomyopathy is a type of familial hypertrophic cardiomyopathy caused by mutations in the TPM1 gene, leading to thickening of the heart muscle.
What are the symptoms of TPM1 gene cardiomyopathy?
Symptoms include chest pain, shortness of breath, fainting, heart palpitations, and fatigue, which can vary in severity.
How is TPM1 gene cardiomyopathy diagnosed?
Diagnosis involves medical history, physical exam, ECG, echocardiogram, cardiac MRI, and genetic testing to confirm TPM1 gene mutations.
What is the NGS genetic test for TPM1 gene?
NGS (Next-Generation Sequencing) is an advanced test that sequences the TPM1 gene to identify mutations associated with hypertrophic cardiomyopathy.
What is the cost of the TPM1 gene cardiomyopathy test in India?
The cost at DNA Labs India is INR 20,000, which includes sample collection, testing, and genetic counseling.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY, but check with private insurers for specifics.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What are the risks of the test?
Risks are minimal and include minor bruising at the blood draw site and rare infection; psychological impact of results should be considered.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What should I do if the test is positive?
If positive, consult a cardiologist or geneticist for further evaluation, management, and family screening; genetic counseling is recommended.
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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For Hospitals & Clinics

Reference 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.

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✓ 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.

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