Janus Kinase (JAK2) V617F Mutation

Specimen Collection, Storage, and Shipping

Test Information:

The assay detects a G to T nucleotide substitution in the pseudokinase domain of the Janus kinase 2 (JAK2) gene. The resultant V617F amino acid substitution confers a proliferative and survival advantage to affected hematopoietic cells1. JAK2V617F has been identified in up to 65 to 97% of polycythemia vera cases, and in 30-50% of essential thrombocythemia and chronic idiopathic myelofibrosis cases.2,5 It is uncommon in other chronic myeloproliferative diseases and in acute leukemias.4,5  The mutation is detected by using a real-time PCR assay with hybridization probes. The sensitivity cut-off for this assay is approximately one JAK2V617F cell in a background of 100 normal cells.

Requisition Code:

JAK2 V617F mutation

CPT Codes:

81270; G0452-26

Turn Around Time:

5-7 days

Specimen Requirements:

Collect:           Peripheral blood: 2-5 mL in EDTA (purple top) tube

                        Bone marrow: 2-5 mL in ACD (yellow top) or EDTA (purple top) tube

Storage:         Room temperature

Remarks:      

Transport:      See Standard Shipping Procedures

References:
  1. Kralovics R, et al. 2005. NEJM 352:1770-89
  2. Villeval J-L, et al. 2006. Sem Thromb Hemostas 32:341-51
  3. Levine RL, et al. 2005. Blood 106:3377-9
  4. Steensma DP, et al. 2005. Blood 106:1207-9
  5. Jones AV, et al. 2005. Blood 106:2162-8