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DNA Labs India

PLN Gene Cardiomyopathy, hypertrophic, type 18 NGS Genetic Test

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PLN Gene Cardiomyopathy, hypertrophic, type 18 NGS Genetic Test

Short Name: PLN Gene Cardiomyopathy Test

Also known as: Hypertrophic Cardiomyopathy Type 18, PLN Gene Mutation Test

PLN Gene Cardiomyopathy, hypertrophic, type 18 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose hypertrophic cardiomyopathy type 18 caused by PLN gene mutations, aiding in early detection, family screening, and personalized treatment planning.

Test Code
5239
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with cardiomyopathy.

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, benefits, and limitations. Informed consent is required.
2
During the Test:Sample collection (blood or DNA) and processing in the laboratory using NGS technology.
3
After the Test:Report generation within 3-4 weeks, followed by consultation with a geneticist or cardiologist to discuss results.

About This Test

Who Should Get This Test

To diagnose hypertrophic cardiomyopathy type 18 caused by PLN gene mutations, aiding in early detection, family screening, and personalized treatment planning.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Follow aseptic techniques during collection
  • Use appropriate containers for blood or DNA samples

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for PLN gene mutations can aid in timely diagnosis and management of hypertrophic cardiomyopathy, allowing for personalized treatment plans and family screening."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

Test results indicate the presence or absence of pathogenic variants in the PLN gene associated with hypertrophic cardiomyopathy type 18.
📊

Positive for pathogenic variant

Detection of a known pathogenic mutation in the PLN gene, consistent with hypertrophic cardiomyopathy type 18. Clinical correlation and genetic counseling recommended.

📊

Negative

No pathogenic variants detected in the PLN gene. Does not rule out other causes of cardiomyopathy.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was detected but its clinical significance is unknown. Further testing, family studies, or clinical follow-up may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms such as chest pain, shortness of breath, or fainting, or have a family history of cardiomyopathy, consult a cardiologist or geneticist for evaluation and possible testing.

Limitations

  • ⚠Test only detects mutations in the PLN gene
  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic test results
  • ●Potential for uncertain results requiring further investigation

Interfering Factors

  • ●Poor sample quality
  • ●Contaminated DNA
  • ●Improper sample handling

Frequently Asked Questions

What is PLN Gene Cardiomyopathy?
PLN Gene Cardiomyopathy is a type of hypertrophic cardiomyopathy (type 18) caused by mutations in the PLN gene, which affects the heart muscle and can lead to symptoms like chest pain and shortness of breath.
What are the symptoms of hypertrophic cardiomyopathy type 18?
Symptoms include chest pain or discomfort, shortness of breath, fainting or dizziness, heart palpitations or irregular heartbeat, and swelling in the legs or ankles.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze DNA from a blood sample or extracted DNA, looking for mutations in the PLN gene.
What is the cost of the PLN Gene Cardiomyopathy test in India?
The cost is INR 20,000 at DNA Labs India, which includes home sample collection across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results can be positive (pathogenic variant detected), negative (no variant detected), or indicate a variant of uncertain significance. Genetic counseling is recommended for interpretation.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a family pedigree chart and discuss the implications of testing.
Can this test be used for family screening?
Yes, if a pathogenic variant is identified, family members can be tested for the same mutation to assess their risk.
What are the risks of the test?
Risks are minimal and include slight discomfort from blood draw and potential psychological impact of results. There are no significant physical risks.
Is the test covered by insurance?
Coverage varies by insurance provider and policy. It is advisable to check with your insurer directly. Government schemes like PMJAY may not cover it.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting known genetic mutations, but accuracy depends on sample quality and the specific variants analyzed. Results should be correlated with clinical findings.
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.
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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