JAK2 V617 Mutation Test, With Reflex To Jak2 Ex- 12, CALR Ex-9 Mutation And MPL W515, S505 Mutation, Bone Marrow in Mumbai

This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis, JAK2 exon mutation analysis and MPL mutation analysis when the JAK2V617F mutation is negative.

Your doctor may prescribe this test in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN).

This reflex test sequentially evaluates for the common major gene variants associated with non-BCR-ABL1-positive myeloproliferative neoplasms until a variant is identified. The testing sequence is based on the reported frequency of gene variants in this disease group. Initial testing evaluates for the presence of the JAK2 V617F variant. If this result is negative or very low positive (0.06%-0.6%), testing proceeds with assessment for CALR gene variants. If the CALR result is also negative, then testing proceeds to evaluate for variants in exon 10 of the MPL gene. If either JAK2 V617F (>0.6%) or CALR variants are detected in the process, the testing algorithm ends; therefore, the complete reflex is followed only in the event of sequential negative variant. An integrated report is issued with the summary of test results.