JAK2_V617F reflex to CALR/MPL/JAK2_Exon 12-16

Synonyms

Janus Kinase 2, Exon 12-16, MPL, CALR

  • Tech Only CPT
  • Tech Pro CPT 81270, 81338, 81219, 81479
  • PowerPath Code JAK2rfxC-M-Ex12
  • Schedule Monday and Thursday
  • Turn Around Time 14-21 days
  • Disease State Myeloproliferative Neoplasms
  • Methodology Real-Time PCR, reflex to Next Generation Sequencing

Organs

Blood / Bone marrow

Specimen Requirements

Minimum of 1 mL whole blood in a purple (EDTA) or pink top tube (EDTA); minimum of 1 mL of bone marrow aspirate in a purple, pink, or green (heparin) top tube.

Clinical Significance

The V617F mutation in the Janus nonreceptor tyrosine kinase 2 (JAK2) gene has been reported in a significant proportion of patients with chronic myeloproliferative disorders (MPDs). The somatic mutation occurs in the transformed hematopoietic precursor and has been identified in 65-97% of polycythemia vera, 23-57% of essential thrombocythemia, and 35-57% of myelofibrosis specimens. CALR, MPL, or JAK2_Ex12-16 will be reflexed if JAK2_V617F mutation is not detected.

Required Patient Info

Copy of the referring client's requisition form to accompany specimen.

Storage and Transportation

Refrigerated: 5 days; ambient (room temperature): 3 days; specimen must be received by laboratory within 7-days of collection.

Cause for Rejection

Frozen specimen; clotted or grossly hemolyzed specimens; serum; specimens without 2 patient identifiers; serum or plasma, aliquots (previously open containers); specimen that were received >7-days after collection.

Retention

Whole blood and bone marrow - 1 week.

LOINC Code(s)

43399-5; 72333-8; 77174-1; 56142-3; 75033-1; 55300-8; 80186-0

Vendor

LDT