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MYH9 Gene Epstein syndrome NGS Genetic Test

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MYH9 Gene Epstein syndrome NGS Genetic Test

MYH9 Gene Epstein syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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.

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 Epstein Syndrome by detecting mutations in the MYH9 gene using NGS technology, aiding in accurate identification and management of the disorder.

Test Code
2584
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
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with MYH9 gene disorders.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:A blood sample or DNA extraction is collected for analysis.
3
After the Test:Results are available in 3 to 4 weeks; follow-up with a genetic specialist is advised.

About This Test

Who Should Get This Test

To diagnose Epstein Syndrome by detecting mutations in the MYH9 gene using NGS technology, aiding in accurate identification and management of the disorder.

How to Prepare

  • Collect blood sample or extracted DNA as per standard procedures.
  • Use FTA card for one drop blood if applicable.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of mutations in the MYH9 gene associated with Epstein Syndrome.
Positive result: Pathogenic mutation detected, confirming diagnosis.
Negative result: No pathogenic variants found; clinical correlation recommended.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If experiencing symptoms such as unexplained bleeding, hearing loss, or kidney issues, or if there is a family history of Epstein Syndrome.

Risks & Considerations

  • ●Minor discomfort or bruising at the blood draw site.
  • ●Minimal risk of infection.

Frequently Asked Questions

What is Epstein Syndrome?
Epstein Syndrome is a rare genetic disorder caused by mutations in the MYH9 gene, leading to bleeding disorders and other symptoms like hearing loss and kidney problems.
What causes Epstein Syndrome?
It is caused by mutations in the MYH9 gene, which codes for a protein essential for platelet function.
How is the MYH9 Gene Epstein Syndrome NGS Genetic Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the DNA sequence of the MYH9 gene from a blood sample or extracted DNA.
What is the cost of the test in India?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the symptoms of Epstein Syndrome?
Symptoms include easy bruising, excessive bleeding, nosebleeds, bleeding gums, heavy menstrual bleeding, hearing loss, cataracts, kidney problems, and high blood pressure.
Is the NGS Genetic Test accurate?
Yes, NGS is a highly accurate and comprehensive method for detecting mutations in the MYH9 gene.
Do I need a doctor's referral for this test?
A referral from a healthcare provider is recommended, along with genetic counseling.
What if the test result is positive?
A positive result confirms a diagnosis of Epstein Syndrome; consult a genetic specialist for management and treatment options.
Can this test be done on children?
Yes, the test can be performed on individuals of all ages, but genetic counseling is advised.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer for details.
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

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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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