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JAK 2 Exon 12 Mutation Detection Test

DNA Labs India | ISO 9001:2015 Certified

JAK 2 Exon 12 Mutation Detection Test

Short Name: JAK2 Exon 12 Mutation Detection

Also known as: JAK2 Exon 12 Mutation Analysis, JAK2 Exon 12 Genetic Test

JAK 2 Exon 12 Mutation Detection Test test available at DNA Labs India for ₹7,500. Uses PCR, Fragment Analysis on Whole Blood samples. Results in Sample collection on Monday/Thursday by 11 am; report available on Wednesday/Saturday.. Free home collection in 300+ cities across India.

Molecular Genetics TestAdults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect mutations in the JAK2 exon 12 gene for diagnosis and management of myeloproliferative neoplasms, helping to confirm suspected cases and inform treatment strategies.

Test Code
1128
Price
₹7,500
Sample Type
Whole Blood
Result Time
Sample collection on Monday/Thursday by 11 am; report available on Wednesday/Saturday.
Fasting Required
No
Method
PCR, Fragment Analysis
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No fasting is required, but avoid strenuous activity before the test.

Method: Venipuncture

Step 2

Laboratory Analysis

A healthcare professional will draw approximately 3 mL of blood from a vein in your arm using standard venipuncture techniques.

Step 3

Report Delivery

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

Timeline: Sample collection on Monday/Thursday by 11 am; report available on Wednesday/Saturday.

Patient Instructions

1
Before the Test:No special preparation needed. Ensure all required forms are completed.
2
During the Test:The test involves a blood sample collection; it is not a procedure that requires patient involvement beyond the draw.
3
After the Test:Wait for results as per the turnaround time. Discuss findings with your doctor.

About This Test

Who Should Get This Test

To detect mutations in the JAK2 exon 12 gene for diagnosis and management of myeloproliferative neoplasms, helping to confirm suspected cases and inform treatment strategies.

How to Prepare

  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Collect 3 mL whole blood in a Lavender Top (EDTA) tube.
  • Ship refrigerated; do not freeze.

Doctor's Notes

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

"This test is crucial for accurate diagnosis of myeloproliferative neoplasms and guiding targeted treatment decisions for better patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume3 mL (2 mL min.)
ContainerLavender Top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerated: 72 hours
Frozen: Not acceptable
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted samples
  • Incorrect sample tube
  • Missing or incomplete requisition form

Understanding Your Results

Results indicate the presence or absence of JAK2 exon 12 mutations. Interpretation should be done by a qualified healthcare professional in the context of clinical symptoms and other diagnostic tests.
Negative: No JAK2 exon 12 mutation detected. Consider other causes if symptoms persist.
Positive: JAK2 exon 12 mutation detected. Confirms diagnosis of associated myeloproliferative neoplasm and guides treatment.
⚠️ When to Consult a Doctor:

If you experience symptoms like fatigue, shortness of breath, or enlarged spleen, or if the test result is positive, consult a hematologist or oncologist for further evaluation and management.

Limitations

  • ⚠Detects only exon 12 mutations, not other JAK2 mutations like V617F
  • ⚠May not identify rare or novel mutations
  • ⚠Results should be correlated with clinical findings and other tests

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Improper storage or handling
  • ●Hemolyzed blood samples
  • ●Use of incorrect sample tube

Compare With Similar Tests

TestJAK 2 Exon 12 Mutation Detection TestJAK2 V617F Mutation Detection TestComplete Blood Count (CBC)
ComparisonJAK 2 Exon 12 Mutation Detection Test

Frequently Asked Questions

What is the JAK2 Exon 12 Mutation Detection Test?
It is a blood test that identifies mutations in the JAK2 gene exon 12, associated with myeloproliferative neoplasms.
Who should consider this test?
Individuals with symptoms like unexplained fatigue, shortness of breath, or enlarged spleen, or those with a suspected myeloproliferative disorder.
How is the test performed?
A blood sample is drawn and analyzed using PCR and fragment analysis to detect specific genetic mutations.
What does a positive result mean?
A positive result indicates the presence of a JAK2 exon 12 mutation, confirming diagnosis of a myeloproliferative neoplasm.
What does a negative result mean?
A negative result means no mutation was detected; symptoms may be due to other causes, and further testing might be needed.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort or bruising, but it is generally well-tolerated.
How long does it take to get results?
Results are typically available within 2 days, depending on sample collection schedule.
Is home sample collection available?
Yes, DNA Labs India offers free home collection for this test in many cities across India.
What is the cost of the test?
The test costs INR 7500, which includes the test and consultation.
Are there any risks associated with the test?
Risks are minimal and include standard blood draw risks like bruising or infection.
How accurate is the test?
The test is highly accurate when performed in accredited labs, but results should be interpreted by a healthcare professional.
Can this test be used for treatment decisions?
Yes, detecting JAK2 mutations helps guide treatment options, such as targeted therapies for myeloproliferative neoplasms.
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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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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