PSEN2 Gene Cardiomyopathy, dilated type 1V NGS Genetic Test
Short Name: PSEN2 Cardiomyopathy NGS Test
Also known as: PSEN2-related dilated cardiomyopathy, PSEN2 gene mutation test for cardiomyopathy
PSEN2 Gene Cardiomyopathy, dilated type 1V 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.
🩺 Medically Reviewed By
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 PSEN2 gene that cause dilated cardiomyopathy type 1V, aiding in accurate diagnosis, risk assessment for family members, and guiding clinical management and treatment decisions.
- Test Code
- 5228
- 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)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.
Method: Venipuncture or finger-prick
Laboratory Analysis
Blood sample is collected via venipuncture or a drop on FTA card by a trained phlebotomist. The process is minimally invasive and takes a few minutes.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry. No specific post-collection care is needed.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the PSEN2 gene that cause dilated cardiomyopathy type 1V, aiding in accurate diagnosis, risk assessment for family members, and guiding clinical management and treatment decisions.
How to Prepare
- Ensure patient identification and consent
- Use sterile equipment for blood collection
- Label samples correctly with patient details
- Store samples at appropriate temperature until transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PSEN2 mutations is essential for identifying hereditary cardiomyopathy and guiding family management, especially in reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Samples not stored or transported as per guidelines
Understanding Your Results
Positive for pathogenic variant
Confirms genetic cause of dilated cardiomyopathy; risk assessment for family members and tailored management recommended.
Negative for pathogenic variant
No PSEN2 mutations detected; consider other genetic or non-genetic causes if symptoms persist.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance unclear; further testing and family studies may be needed.
Consult a doctor if you experience symptoms like shortness of breath, fatigue, or chest pain, or if you have a family history of cardiomyopathy. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all genetic variants or mutations in non-coding regions
- ⚠Variants of uncertain significance (VUS) may be identified
- ⚠Does not rule out other genetic or non-genetic causes of cardiomyopathy
- ⚠Results require interpretation by a genetic specialist
Risks & Considerations
- ●Minimal physical risks from blood draw, such as bruising or infection
- ●Psychological impact from test results, requiring genetic counseling
Interfering Factors
- ●Poor sample quality or contamination
- ●Insufficient DNA quantity
- ●Hemolyzed or degraded blood samples
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | PSEN2 Gene Cardiomyopathy, dilated type 1V NGS Genetic Test | Echocardiogram | Cardiac MRI | ECG |
|---|---|---|---|---|
| Comparison | PSEN2 Gene Cardiomyopathy, dilated type 1V NGS Genetic Test | Non-invasive imaging to assess heart structure and function, but does not provide genetic information. | Detailed imaging for myocardial assessment, complementary to genetic testing for comprehensive diagnosis. | Measures electrical activity of the heart; useful for detecting arrhythmias but not specific for genetic causes. |
Frequently Asked Questions
What is PSEN2 Gene Cardiomyopathy, dilated type 1V?
What are the common symptoms of this condition?
How is the PSEN2 Gene Cardiomyopathy NGS Genetic Test performed?
What is the cost of this test at DNA Labs India?
Is home sample collection available?
How long does it take to get the results?
What does a positive test result mean?
Is genetic counseling required before testing?
Can this test be used for prenatal diagnosis?
What are the risks associated with this genetic test?
How accurate is the PSEN2 Gene Cardiomyopathy NGS Genetic Test?
What should I do if I have a family history of cardiomyopathy?
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₹20,000Reference 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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