JAK2_V617F with reflex to CALR_Ex9 Intel/MPL_W515K/L by PCR

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.

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.
Testing for CALR and MPL proceeds following a negative JAK2_V617F result.

Somatic mutations in CALR gene, which encodes endoplasmic reticulum chaperone Calreticulin, were found in majority of patients with Myeloproliferative neoplasms without JAK2 mutation. Insertions or deletions in exon 9 of CALR were detected in 67% of patients with essential thrombocythemia (ET) and 88% of those with primary myelofibrosis (PMF), but rarely detected in patients with polycythemia vera. This assay was designed to detect all types of insertions and deletions in exon 9 of CALR that has been reported.

Thrombopoietin receptor gene (MPL) mutations have been associated with myeloproliferative disorders such as essential thrombocythemia (ET) and primary myelofibrosis (PMF). Mutations in the MPL gene have been reported in patients negative for JAK2_V617F mutation. The most common MPL mutations are substitutions in codon 515. W515L and W515K mutations can be found in 0-10% of PM patients and 0-6% of ET cases.

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

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

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.

2 years DNA and raw data; whole blood and bone marrow - 1 week.

This test was developed and its performance characteristics determined by CellNetix Labs LLC. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. CellNetix is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.

Testing for CALR and MPL will only take place following a negative JAK2_V617F result.