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DNA Labs India

PSEN1 Gene Cardiomyopathy, dilated type 1U NGS Genetic Test

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PSEN1 Gene Cardiomyopathy, dilated type 1U NGS Genetic Test

PSEN1 Gene Cardiomyopathy, dilated type 1U 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect mutations in the PSEN1 gene that cause dilated cardiomyopathy type 1U, enabling accurate diagnosis, treatment planning, and genetic counseling for affected individuals and their families.

Test Code
5223
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with PSEN1 gene cardiomyopathy.

Method: Blood Draw

Step 2

Laboratory Analysis

A blood sample is drawn from a vein in the arm, or a drop of blood is collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before sample collection.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Results are available online after 3 to 4 weeks. Follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

To detect mutations in the PSEN1 gene that cause dilated cardiomyopathy type 1U, enabling accurate diagnosis, treatment planning, and genetic counseling for affected individuals and their families.

How to Prepare

  • Provide detailed clinical and family history
  • Attend genetic counseling session prior to testing
  • Ensure proper identification and labeling of samples

Doctor's Notes

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

"Early genetic testing for PSEN1 mutations can guide treatment strategies and facilitate family screening for dilated cardiomyopathy."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples
  • Incorrect labeling or missing documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PSEN1 gene. A positive result confirms genetic predisposition to dilated cardiomyopathy type 1U.
📊

Positive for pathogenic variant

Confirms diagnosis of PSEN1 gene cardiomyopathy. Recommend clinical management, family screening, and genetic counseling.

📊

Negative for pathogenic variant

No mutation detected in the PSEN1 gene. Clinical correlation is advised if symptoms persist.

📊

Variant of uncertain significance (VUS)

Genetic variant found but clinical significance is unknown. Further testing and follow-up recommended.

⚠️ When to Consult a Doctor:

If you experience symptoms like shortness of breath, fatigue, or swelling, or have a family history of cardiomyopathy, consult a cardiologist or genetic specialist promptly.

Limitations

  • ⚠May not detect all genetic variants, including deep intronic mutations
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not assess other causes of cardiomyopathy

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA quality
  • ●Presence of inhibitors in the sample

Frequently Asked Questions

What is the PSEN1 Gene Cardiomyopathy Test?
It is an NGS genetic test to detect mutations in the PSEN1 gene associated with dilated cardiomyopathy type 1U.
Why is this test recommended?
It is recommended for individuals with symptoms of dilated cardiomyopathy or a family history of the condition to confirm genetic diagnosis.
How is the test performed?
A blood sample or extracted DNA is analyzed using Next-Generation Sequencing (NGS) technology to identify PSEN1 gene mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a PSEN1 gene mutation causing cardiomyopathy; a negative result means no mutation was detected. Genetic counseling is advised for interpretation.
Are there any risks associated with the test?
The test involves minimal risks such as minor bruising from blood draw. Emotional support may be needed for genetic results.
Can this test be used for family screening?
Yes, if a mutation is found, family members can be tested to assess their risk.
What should I do if the test is positive?
Consult a cardiologist or genetic specialist for management options, lifestyle changes, and family screening.
Is the test covered by insurance?
Coverage depends on your insurance plan. Check with your provider for details.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting genetic mutations, but 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.

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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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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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