JAK2 Reflex for Essential Thrombocythemia

Label Mnemonic:	RFLX JAK2 ET
Epic code:	LAB8543
Downtime form:	Doctor/Provider Orders - Pathology Molecular

Molecular Pathology
6240 RCP
384-9568

Specimen(s):

Bone Marrow Aspirate

Collection Medium:

Pink top tube 6 mL (K2-EDTA)

Minimum:

Adults: 3 mL Bone Marrow Aspirate. Testing requires a dedicated collection tube.

Delivery Instructions:

Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, weekends or holidays.

Testing Schedule:

Weekly

Turn Around Time:

7-10 working days

Reference Range:

Mutation not detected

Comments:

By ordering this test the physician directs the molecular pathology laboratory to perform testing reflexively for the mutations commonly associated with essential thrombocythemia and myelofibrosis. JAK2 exons 12-14, CALR exon 9 and MPL exon 10 coding sequences are amplified by polymerase chain reaction (PCR) and sequenced in both directions using next generation sequencing in that order (See the Essential Thrombocythemia Algorithm). Once a mutation is identified no further analysis is performed. The reference sequences with which this patient's DNA sequence are compared are NM_004972, NM_004343, and NM_005373.1.

Methodology:

Sequencing and/or PCR fragment analysis

CPT Code:

The appropriate CPT code(s) will be billed depending on the patient's results including; 81270, 81219, and 81403.