Hematologic Diseases

Detects JAK2 exons 12 and 13 mutations, which are found a subset of myeloproliferative neoplasms (MPN). DNA sequences of JAK2 exons 12 and 13 are determined using next-generation sequencing technology.

disease state indication(s)
Myeloproliferative neoplasms (MPN), polycythemia vera (PV)

clinical use
JAK2 exons 12 or 13 mutations are found in <5% of patients with polycythemia vera (PV). Detection of JAK2 exon 12 mutations or the more common JAK2 V617F mutation is included as one of the majority diagnostic criteria for PV in the World Health Organization (WHO) classification of hematopoietic neoplasms.

methodology/product platform
Amplicon-based, next-generation sequencing (NGS)

specimen type and requirements
Peripheral blood: 2-3 mL in EDTA (purple-top) tube.
Bone marrow: 2-3 mL in EDTA (purple-top) tube.
Note: Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen. DO NOT FREEZE.

turnaround time
Global (TC & PC): 10-12 days

cpt code(s)
81403 (x1)

medicare moldx cpt code
81450 (x1)

regulatory classification
Laboratory developed test (LDT)

ordering option
Global (TC & PC)