What is the JAK2 Exon 12 Mutation Test?
A genetic test that detects mutations in the JAK2 gene (Exon 12 region).
The JAK2 gene is responsible for regulating blood cell production in the bone marrow.
Mutations in Exon 12 are associated with polycythemia vera (PV) and other myeloproliferative neoplasms (MPNs).
🎯 Purpose of the Test
✅ Confirms JAK2 Exon 12 mutations in patients suspected of having polycythemia vera (PV).
✅ Helps differentiate PV from other blood disorders.
✅ Assists in treatment planning and disease monitoring.
📊 Normal Ranges & Interpretation
🔹 Normal Result: No detectable JAK2 Exon 12 mutation (Negative result).
🔹 Abnormal Result: Presence of JAK2 Exon 12 mutation (Positive result), indicating a risk for polycythemia vera or other MPNs.
📝 Test Procedure
1️⃣ A blood or bone marrow sample is collected.
2️⃣ The sample undergoes molecular genetic testing (PCR or sequencing) to detect JAK2 Exon 12 mutations.
3️⃣ Results help confirm the presence or absence of mutations.
⚠️ Who Should Get Tested?
🔹 Patients with signs of polycythemia vera (PV), such as:
Elevated red blood cell count (erythrocytosis)
Fatigue, headaches, dizziness
Blood clot risk, itching after bathing
🔹 Individuals with suspected myeloproliferative neoplasms (MPNs) and a negative JAK2 V617F mutation test.
🔹 Those needing genetic confirmation of PV for treatment planning.
✅ Why is This Test Important?
✔️ Identifies JAK2 Exon 12 mutations to confirm polycythemia vera.
✔️ Helps distinguish PV from other blood disorders.
✔️ Guides treatment decisions and disease monitoring.