JAK2 Reflex for Essential Thrombocythemia

Label Mnemonic:	RFLX JAK2 ET
Epic code:	LAB8543
Order form:	Comprehensive Hematopathology Requisition
Supply order:	Supply Order Form
Billing:	Billing Policies
CPT code:	The appropriate CPT code(s) will be billed depending on the patient's results including; 81270, 81219, and 81403.

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.

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

Sample Processing:

Label transport tube with two patient identifiers, date and time of collection.
Submit whole blood in original container. DO NOT CENTRIFUGE.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.

Sample Storage:

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

Transport Instructions:

Place specimen into zip-lock type bag, seal bag.
Place requisition into outside pocket of bag.
Ship refrigerated.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.
Recommend early AM overnight shipping or equivalent if not on courier service.