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JAK2 Gene JAK2, selective sequencing of exons 12, 14 and 16 NGS Genetic Test

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JAK2 Gene JAK2, selective sequencing of exons 12, 14 and 16 NGS Genetic Test

Short Name: JAK2 Gene Test

Also known as: JAK2 Mutation Test, JAK2 Sequencing Test, JAK2 NGS Test

JAK2 Gene JAK2, selective sequencing of exons 12, 14 and 16 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (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.

Genetic Test🏠 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 identify mutations in exons 12, 14, and 16 of the JAK2 gene for diagnosing myeloproliferative neoplasms and guiding treatment decisions.

Test Code
2877
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree if available.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting required. Inform your doctor about any medications or health conditions.
2
During the Test:A blood sample will be collected. The process takes a few minutes.
3
After the Test:You can resume normal activities immediately. Results will be available in 3-4 weeks.

About This Test

Who Should Get This Test

To identify mutations in exons 12, 14, and 16 of the JAK2 gene for diagnosing myeloproliferative neoplasms and guiding treatment decisions.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"This test is crucial for diagnosing myeloproliferative disorders and guiding targeted therapy, ensuring early intervention and personalized treatment plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in JAK2 exons 12, 14, and 16. Positive results may suggest myeloproliferative neoplasms, while negative results do not rule out other conditions.
📊

Mutation Detected

Indicates a pathogenic variant in the JAK2 gene, associated with myeloproliferative disorders. Consult a hematologist or oncologist for further evaluation.

📊

No Mutation Detected

No pathogenic variants found in the sequenced exons. Clinical correlation is recommended if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like fatigue, shortness of breath, or easy bruising, or if you have a family history of blood disorders. Also, consult after receiving test results for appropriate management.

Limitations

  • ⚠Only exons 12, 14, and 16 are sequenced; other JAK2 mutations may not be detected
  • ⚠Results may require confirmation with additional tests
  • ⚠Not suitable for prenatal diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestJAK2 Gene JAK2, selective sequencing of exons 12, 14 and 16 NGS Genetic TestJAK2 V617F Mutation TestFull JAK2 Gene Sequencing
ComparisonJAK2 Gene JAK2, selective sequencing of exons 12, 14 and 16 NGS Genetic Test

Frequently Asked Questions

What is the JAK2 Gene Test?
It is a genetic test that sequences specific exons (12, 14, 16) of the JAK2 gene using NGS technology to detect mutations associated with blood disorders.
Why is this test performed?
To diagnose myeloproliferative neoplasms like polycythemia vera, essential thrombocythemia, and primary myelofibrosis, and to guide treatment.
How is the test conducted?
A blood sample is collected and analyzed using Next Generation Sequencing to identify mutations in the specified exons.
What samples are required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Positive results indicate mutations in the JAK2 gene, which may suggest a blood disorder. Negative results mean no mutations were detected in the sequenced exons.
Are there any risks associated with the test?
The risks are minimal, similar to a standard blood draw, such as slight pain or bruising.
How accurate is the test?
The test uses advanced NGS technology for high accuracy, but results should be correlated with clinical findings.
Can this test diagnose cancer?
It helps diagnose myeloproliferative neoplasms, which are blood cancers, but a comprehensive diagnosis may require additional tests.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, analysis, and report generation.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
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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