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DNA Labs India

EPAS1 Gene Erythrocytosis, familial type 4 NGS Genetic Test

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EPAS1 Gene Erythrocytosis, familial type 4 NGS Genetic Test

EPAS1 Gene Erythrocytosis, familial type 4 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

Test Code
2672
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 erythrocytosis.

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.
2
During the Test:Sample collection as per instructions.
3
After the Test:Results will be available in 3 to 4 weeks.

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 EPAS1 gene associated with familial erythrocytosis type 4.
Positive: Pathogenic variant detected, confirming diagnosis.
Negative: No pathogenic variant detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing may be required.
⚠️ When to Consult a Doctor:

If you experience symptoms of erythrocytosis or have a family history of the condition, consult a genetic counselor or healthcare provider for evaluation and testing.

Frequently Asked Questions

What is EPAS1 Gene Erythrocytosis, familial type 4?
It is a rare genetic disorder caused by mutations in the EPAS1 gene, leading to overproduction of red blood cells.
What are the symptoms of this condition?
Symptoms may include fatigue, dizziness, headaches, shortness of breath, chest pain, blurred vision, and tinnitus.
How is EPAS1 Gene Erythrocytosis diagnosed?
Diagnosis is typically through genetic testing, such as NGS, to detect mutations in the EPAS1 gene.
What is the cost of the NGS Genetic Test at DNA Labs India?
The test costs INR 20,000, 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.
What is the turnaround time for results?
Reports are typically delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
Who should consider this genetic test?
Individuals with symptoms of erythrocytosis or a family history of the condition should consider testing after genetic counseling.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and understand the implications of testing.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the EPAS1 gene, confirming the diagnosis of familial erythrocytosis type 4.
What are the treatment options for this condition?
Treatment may include phlebotomy or medications to manage symptoms, but consultation with a healthcare provider is essential.
Is the test covered by insurance?
Coverage depends on the insurance provider; schemes like PMJAY, CGHS, ECHS, ESIC, and private insurance may vary.
How can I book the EPAS1 Gene Erythrocytosis test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp 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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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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