JAK2 V617F Cascading Reflex to CALR, JAK2 Exon 12, MPL, and CSF3R

Last Modified: 4/8/2019 12:55:11 PM


Specimen Requirements: 5.0 mL Whole Blood in a Lavender Top Tube - EDTA
Minimum Volume: 1.0 Whole blood
Transport & Storage: Temperature/Stability: 7 days Ambient
7 days Refrigerated
Unacceptable Frozen
Rejection Criteria: Do not reject specimens, send to laboratory for screening
Reference Range: Refer to interpretive results
Test Comments: Since these mutations are essentially mutually exclusive, reporting is done in a stepwise fashion based on mutation frequencies assessing JAK2 V617F, then exon 9 of CALR (calreticulin), then exon 12 of JAK2, then codon 505 and 515 of MPL, and then two mutational hotspots in the CSF3R gene. Once a pathogenic or MPN-associated mutation in a target gene is identified in this sequence, the remainder of the genes are not reported or billed. The reflexed assays test leukocytes from blood or bone marrow aspirates for clinically relevant hotspot mutations using an advanced DNA sequencing method.
Methodology: Polymerase Chain Reaction-based DNA Sequencing
Clinical Significance: This DNA-based cascading reflex identifies the disease-defining mutations in four genes used for diagnosis and follow-up of myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and chronic neutrophilic leukemia (CNL).
Documentation:
This test does NOT include testing for BCR-ABL1 rearrangement in chronic myelogenous leukemia (CML) which can be detected by PCR using test code 91065 or FISH using code 12070.
Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 5 to 7 days
Days Performed: Sunday, Monday, Tuesday, Wednesday, Thursday, Friday, Saturday
Sites Performed: Quest - Chantilly
PHL Test Code: JAKCR
EPIC Test Code: LAB3123
Send Out Test Code: 92472
Alternate Test Names: Essential Thrombocythemia (ET); ET; MPN Cascading Reflex; Myeloproliferative neoplasm; PMF; Polycythemia Vera (PV); Primary Myelofibrosis (PMF); PV
CPT Coding: 81219, 81270, 81402, 81403, 81479

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