Quantitative JAK2 V617F Mutation Molecular Detection Build info

Synonyms

• JAK2 MUTATION
• 221
• HLX JAK-2 MUTATION CASE
• MPN JAK2, MUTANT JAK2 V617F ALLELIC BURDEN, BCR-ABL1 NEGATIVE TESTING
• LAB11401

Short Name

JAK2 MUTATION

Procedure Master Number

LAB11401

Procedure ID

115143

Clinical Info

Myeloproliferative disorders (MPD) are believed to originate through transformation in hematopoietic stem cells (1). Polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF) are three main Ph-negative MPDs; these share many characteristics such as marrow hyper-cellularity, risk for thrombosis and hemorrhage and transformation to leukemia.Recent studies on activated tyrosine kinases and signaling through Janus kinases have led to the identification of an acquired point mutation, G1849T in exon 14, in Janus kinase-2 (JAK2) gene in several patients with MPD. In fact, this mutation, V617F, in which phenylalanine is substituted for valine at position 617 has been reported in 95% of patients with PV, and in about 50 to 60% of patients with ET and IMF. This mutation is also reported in a few patients with other MPD conditions and Acute nonlymphocytic leukemia (ANLL), but not reported in patients with lymphoid malignancies, or Chronic myelogenous leukemia (CML).

Specimen Type

Blood, Bone Marrow

Container

Lavender Top Tube

Collection Instructions

Peripheral Blood or Bone marrow
Container/Tube:  Lavender-top (EDTA) tube
Specimen: 1-3 ml of peripheral blood or bone marrow 
Transport Temperature: 4°C or room temperature

Transport Instructions

4°C or room temperature

Specimen Stability

Specimens are stable for a week refrigerated.

Methodology

Real-Time Polymerase Chain Reaction (PCR)

Days Performed

Monday through Friday
TAT: 8 Calendar days

Performing Laboratory

Northwell Health Laboratories

CPT

81270

PDM

5160105

Results