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EIF2AK4 Gene Pulmonary venoocclusive disease type 2 NGS Genetic Test

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EIF2AK4 Gene Pulmonary venoocclusive disease type 2 NGS Genetic Test

Also known as: Pulmonary Venoocclusive Disease Type 2, EIF2AK4 Gene Mutation Test

EIF2AK4 Gene Pulmonary venoocclusive disease type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the EIF2AK4 gene that cause Pulmonary Venoocclusive Disease Type 2 (PVOD2). Early detection through genetic testing enables accurate diagnosis, informed treatment decisions, and genetic counselling for affected individuals and their families.

Test Code
5286
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counselling to draw a pedigree chart of family members.

Method: Blood Draw

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture.

Step 3

Report Delivery

The sample will be sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counselling session and review of clinical history.
2
During the Test:Blood sample collection.
3
After the Test:Wait for report delivery in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the EIF2AK4 gene that cause Pulmonary Venoocclusive Disease Type 2 (PVOD2). Early detection through genetic testing enables accurate diagnosis, informed treatment decisions, and genetic counselling for affected individuals and their families.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Ensure proper identification for sample labeling

Doctor's Notes

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

"Early diagnosis through genetic testing can improve management of pulmonary venoocclusive disease."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results from the EIF2AK4 Gene NGS Genetic Test indicate the presence or absence of mutations associated with Pulmonary Venoocclusive Disease Type 2.
📊

Mutation Detected

Positive for EIF2AK4 gene mutation, confirming diagnosis of PVOD2. Genetic counselling and specialist consultation recommended.

📊

No Mutation Detected

Negative for EIF2AK4 gene mutation. Clinical correlation with symptoms and other diagnostic tests is advised.

⚠️ When to Consult a Doctor:

If you experience persistent respiratory symptoms, have a family history of PVOD, or receive a positive test result, consult a pulmonologist or geneticist immediately.

Risks & Considerations

  • ●Minor bruising at the blood draw site
  • ●Rare risk of infection

Frequently Asked Questions

What is EIF2AK4 Gene Pulmonary Venoocclusive Disease Type 2 NGS Genetic Test?
This is a genetic test that uses Next-Generation Sequencing (NGS) to detect mutations in the EIF2AK4 gene, which is associated with Pulmonary Venoocclusive Disease Type 2 (PVOD2), a rare lung disorder.
What is Pulmonary Venoocclusive Disease (PVOD)?
PVOD is a rare and life-threatening disease characterized by blockage of veins in the lungs, leading to high blood pressure in the pulmonary arteries and potentially heart failure.
What are the symptoms of PVOD?
Common symptoms include shortness of breath, coughing, chest pain, fatigue, difficulty exercising, and swelling in the legs or feet.
How is PVOD diagnosed?
Diagnosis can be challenging due to symptom overlap with other respiratory diseases. Genetic testing for EIF2AK4 mutations via NGS is a key tool for accurate diagnosis.
What is the role of EIF2AK4 gene in PVOD?
Mutations in the EIF2AK4 gene disrupt the regulation of blood vessel growth in the lungs, leading to PVOD type 2.
How does NGS Genetic Testing work for this test?
NGS technology analyzes the genetic makeup to identify mutations in the EIF2AK4 gene from a blood sample, providing detailed insights for diagnosis.
What is the cost of the test in India?
The cost of the EIF2AK4 Gene PVOD2 NGS Genetic Test in India is INR 20000, 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 the results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do before the test?
Provide your clinical history and undergo a genetic counselling session to draw a family pedigree chart. No fasting is required.
What do the test results mean?
A positive result indicates an EIF2AK4 gene mutation, confirming PVOD2. A negative result means no mutation was detected, but clinical correlation is recommended.
Who should consider this genetic test?
Individuals with symptoms of PVOD, a family history of the condition, or those suspected of having pulmonary venoocclusive disease should consider this test.
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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