JAK-2 Exon 14 to 12 (Reflex Testing)

The JAK-2 Exon 14 to 12 (Reflex Testing) is a comprehensive molecular diagnostic test used for detecting gene mutations commonly associated with myeloproliferative neoplasms (MPNs) such as Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF).

The testing process begins with screening for the JAK2 V617F mutation (Exon 14), the most frequent mutation seen in MPNs. If this mutation is absent or only weakly positive, the test automatically reflexes to analyze JAK2 Exon 12, followed by CALR Exon 9, and MPL W515/S505 mutations. These sequential analyses ensure that all major gene variants linked to MPNs are checked until one is detected.

This stepwise testing pattern provides a complete genetic overview, assisting doctors in confirming the diagnosis, classifying the MPN subtype, and planning appropriate management. It also helps distinguish MPNs that are BCR-ABL1-negative, meaning they are not linked to chronic myeloid leukemia.

Your doctor may prescribe this test along with bone marrow histology and cytogenetic analysis to support the diagnosis of MPNs and to obtain a comprehensive understanding of blood and bone marrow abnormalities. When performed together, these evaluations help confirm the molecular, morphological, and chromosomal aspects of the disease, allowing for more accurate classification and tailored treatment.

For this test, it is important to submit the clinical history, histopathology report, previous test results, and a doctor’s prescription at the time of sample collection. The Tata 1mg consolidated Test Requisition Form (TRF) must also be duly filled and submitted.

Lab test results may vary across different laboratories. Abnormal test results require an expert interpretation. Therefore, never try to self-medicate at home based solely on these results, and always consult a doctor for proper understanding of the test results.