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EPOR Gene Erythrocytosis, familial type 1 NGS Genetic Test

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EPOR Gene Erythrocytosis, familial type 1 NGS Genetic Test

Short Name: EPOR Erythrocytosis NGS Test

Also known as: Familial Erythrocytosis Type 1, EPOR Gene Mutation Test

EPOR Gene Erythrocytosis, familial type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)All 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 diagnose familial erythrocytosis type 1 by identifying mutations in the EPOR gene using Next Generation Sequencing, enabling early intervention and management.

Test Code
2681
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Ensure genetic counseling session is scheduled.

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.

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 session recommended to discuss test implications and family history.
2
During the Test:Sample collection involves a simple blood draw; procedure takes about 10-15 minutes.
3
After the Test:Results will be available in 3-4 weeks. Follow-up with a genetic counselor or physician is advised.

About This Test

Who Should Get This Test

To diagnose familial erythrocytosis type 1 by identifying mutations in the EPOR gene using Next Generation Sequencing, enabling early intervention and management.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment and containers
  • Label samples accurately with patient details
  • Transport samples at ambient temperature

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing familial erythrocytosis and preventing complications such as blood clots and stroke."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the EPOR gene, which are associated with familial erythrocytosis type 1.
Positive: Pathogenic mutation detected, consistent with familial erythrocytosis type 1
Negative: No pathogenic mutation detected
Variant of uncertain significance: Further testing and clinical evaluation recommended
⚠️ When to Consult a Doctor:

If symptoms persist, if there is a family history of erythrocytosis, or if test results are positive or uncertain.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a standalone diagnostic tool; clinical correlation needed

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Contaminated DNA sample
  • ●Recent blood transfusion
  • ●Improper sample storage

Compare With Similar Tests

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Frequently Asked Questions

What is EPOR Gene Erythrocytosis, familial type 1?
It is a rare genetic disorder caused by mutations in the EPOR gene, leading to overproduction of red blood cells.
What are the symptoms of familial erythrocytosis type 1?
Common symptoms include fatigue, shortness of breath, dizziness, headaches, and increased risk of blood clots.
How is familial erythrocytosis type 1 diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS analysis of the EPOR gene.
What is the NGS Genetic Test for EPOR gene?
It is a Next Generation Sequencing test that detects mutations in the EPOR gene to diagnose familial erythrocytosis type 1.
What is the cost of the EPOR Gene Erythrocytosis Test at DNA Labs India?
The test costs INR 20000, including test kit, analysis, and report.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the EPOR gene, confirming familial erythrocytosis type 1.
What are the treatment options for familial erythrocytosis type 1?
Treatment may include medications to reduce red blood cells, blood thinners, and regular monitoring; there is no cure.
Is genetic counseling required for this test?
Yes, genetic counseling is recommended before and after testing to understand implications and guide management.
Can this test be performed on children?
Yes, the test can be performed on individuals of all ages, but pediatric cases require careful genetic counseling.
What are the risks associated with the test?
Risks are minimal and include bruising at the blood draw site and potential emotional impact of results.
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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✓ 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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