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PRDM16 Gene Cardiomyopathy, dilated type 1LL NGS Genetic Test

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PRDM16 Gene Cardiomyopathy, dilated type 1LL NGS Genetic Test

Short Name: PRDM16 Cardiomyopathy NGS Test

Also known as: PRDM16-related dilated cardiomyopathy, Dilated Cardiomyopathy Type 1LL

PRDM16 Gene Cardiomyopathy, dilated type 1LL NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic Test🏠 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 PRDM16 gene that cause dilated cardiomyopathy type 1LL, aiding in accurate diagnosis, risk stratification, and guiding therapeutic interventions.

Test Code
5218
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
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA card blood drop

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a blood drop on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store the sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide clinical history. No specific preparation is needed, but follow any instructions from your doctor.
2
During the Test:A small blood sample is drawn from a vein in your arm or a blood drop is collected on an FTA card. The process is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. Results will be available in 3-4 weeks and delivered via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the PRDM16 gene that cause dilated cardiomyopathy type 1LL, aiding in accurate diagnosis, risk stratification, and guiding therapeutic interventions.

How to Prepare

  • Fast for 8-12 hours if specified, though not typically required
  • Bring identification and doctor's referral
  • Inform about any medications or recent transfusions

Doctor's Notes

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

"This test is crucial for early diagnosis and management of genetic cardiomyopathy, helping to guide treatment and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card blood drop

Sample Stability

Room temperature24 hours for blood; FTA card stable for years
RefrigeratedUp to 7 days for blood samples
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect labeling or insufficient volume
  • Contaminated or degraded samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PRDM16 gene. Positive results confirm genetic predisposition to dilated cardiomyopathy type 1LL, while negative results may require further testing if clinical suspicion remains high.
📊

Positive

Pathogenic variant detected; confirms genetic cardiomyopathy. Recommend cardiac evaluation and family screening.

📊

Negative

No pathogenic variants found. Consider other genetic or non-genetic causes if symptoms persist.

📊

Variant of uncertain significance (VUS)

Genetic change identified but clinical significance unknown. Follow-up with genetic counseling and periodic reassessment.

⚠️ When to Consult a Doctor:

Consult a cardiologist or geneticist if you experience symptoms like shortness of breath, fatigue, or chest pain, or if you have a family history of cardiomyopathy. After testing, discuss results with a healthcare provider for appropriate management.

Limitations

  • ⚠May not detect all genetic variants or mutations in non-coding regions
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other causes of cardiomyopathy

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is PRDM16 Gene Cardiomyopathy Dilated Type 1LL?
It is a rare genetic disorder caused by mutations in the PRDM16 gene, leading to dilated cardiomyopathy where the heart becomes enlarged and weak.
Who should consider this genetic test?
Individuals with symptoms of dilated cardiomyopathy, a family history of the condition, or those diagnosed with unexplained cardiomyopathy.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample or FTA card for mutations in the PRDM16 gene.
What is the cost of the test in India?
The cost is approximately INR 20,000, with free home sample collection available in many cities across India.
Is fasting required before the test?
No, fasting is not typically required for this genetic test.
How long does it take to get results?
Results are usually available within 3 to 4 weeks after sample collection.
What do the results mean?
Positive results indicate a pathogenic variant in the PRDM16 gene, confirming genetic cardiomyopathy. Negative results suggest no such variants were found.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications, family risks, and management options.
Can this test be done at home?
Yes, free home sample collection is available for online bookings in numerous cities across India.
What are the risks of the test?
Risks are minimal, including minor discomfort from blood draw and potential psychological impact; counseling can help mitigate concerns.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting genetic mutations, but results should be interpreted by a qualified genetic specialist.
What should I do if the test is positive?
Consult a cardiologist or geneticist for further evaluation, treatment planning, and family screening to manage the condition effectively.
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.

LIMS Integration

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.

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