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JPH2 Gene Cardiomyopathy, familial hypertrophic type 17 NGS Genetic Test

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JPH2 Gene Cardiomyopathy, familial hypertrophic type 17 NGS Genetic Test

Short Name: JPH2 FHC Type 17 NGS Test

Also known as: JPH2 gene cardiomyopathy, Familial hypertrophic cardiomyopathy type 17, FHC type 17

JPH2 Gene Cardiomyopathy, familial hypertrophic type 17 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 from sample receipt. Free home collection in 300+ cities across India.

NGS 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

To identify mutations in the JPH2 gene that cause familial hypertrophic cardiomyopathy type 17, aiding in diagnosis and management.

Test Code
2525
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to discuss implications and draw pedigree chart.

Method: Venipuncture or Blood Drop

Step 2

Laboratory Analysis

Standard blood draw procedure; for FTA card, a single drop of blood is sufficient.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling to understand the test, implications, and family history assessment.
2
During the Test:Blood sample collection via venipuncture or blood drop on FTA card.
3
After the Test:Wait for 3-4 weeks for results. Follow-up with genetic counselor or physician to discuss findings.

About This Test

Who Should Get This Test

To identify mutations in the JPH2 gene that cause familial hypertrophic cardiomyopathy type 17, aiding in diagnosis and management.

How to Prepare

  • Avoid eating or drinking for 2 hours before blood draw if specified
  • Provide detailed family history
  • Ensure proper labeling of sample

Doctor's Notes

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

"Early genetic testing can help in managing familial cardiomyopathies and guiding family planning."

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 or FTA Card
Collection MethodVenipuncture or Blood Drop

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for up to 1 week at 4°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Clotted or hemolyzed sample
  • Incorrect sample type

Understanding Your Results

The test results indicate whether pathogenic mutations in the JPH2 gene are present, which are associated with familial hypertrophic cardiomyopathy type 17.
📊

Positive

Pathogenic mutation detected in JPH2 gene. Increased risk for cardiomyopathy. Genetic counseling and cardiac evaluation recommended.

📊

Negative

No pathogenic mutation detected. However, clinical symptoms should be evaluated, and other genetic causes may be considered.

📊

Variant of Uncertain Significance

A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms like chest pain, shortness of breath, or have a family history of heart disease, consult a cardiologist or geneticist for evaluation.

Limitations

  • ⚠Limited to JPH2 gene mutations
  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results

Interfering Factors

  • ●Hemolyzed blood sample
  • ●Contaminated DNA sample
  • ●Improper sample storage

Compare With Similar Tests

TestJPH2 Gene Cardiomyopathy, familial hypertrophic type 17 NGS Genetic TestMYH7 Gene TestTNNT2 Gene TestMYBPC3 Gene Test
ComparisonJPH2 Gene Cardiomyopathy, familial hypertrophic type 17 NGS Genetic TestDetects mutations in MYH7 gene, another common cause of hypertrophic cardiomyopathy.For mutations in TNNT2 gene associated with cardiomyopathy.Targets MYBPC3 gene mutations in hypertrophic cardiomyopathy.

Frequently Asked Questions

What is JPH2 Gene Cardiomyopathy?
JPH2 Gene Cardiomyopathy is a type of familial hypertrophic cardiomyopathy caused by mutations in the JPH2 gene, leading to thickening of the heart muscles.
What are the symptoms of JPH2 Gene Cardiomyopathy?
Symptoms include chest pain, shortness of breath, heart palpitations, fainting, dizziness, and fatigue. Some individuals may be asymptomatic.
How is JPH2 Gene Cardiomyopathy diagnosed?
Diagnosis involves medical history, physical exam, ECG, echocardiogram, MRI, and genetic testing to confirm mutations in the JPH2 gene.
What is the cost of the JPH2 Gene Cardiomyopathy NGS Genetic Test in India?
The cost is INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from the date of sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the JPH2 gene, which increases the risk for familial hypertrophic cardiomyopathy. Genetic counseling and cardiac evaluation are recommended.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, but genetic counseling is advised for minors to discuss implications.
Is genetic counseling required before the test?
Genetic counseling is recommended to understand the test, implications, and to draw a family pedigree chart, but it is not mandatory.
What other genetic tests are related to cardiomyopathy?
Related tests include MYH7, TNNT2, MYBPC3, and LMNA gene tests, which are also associated with hypertrophic cardiomyopathy.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy. It is advisable to check with your insurance company for details.
How do I book the JPH2 Gene Cardiomyopathy NGS Genetic Test?
You can book the test online through DNA Labs India's website or by contacting their customer service for assistance.
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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