JAK2 Single Gene by NGS


Sunquest Code:JAK2SG  
Epic Code:LAB8045Epic Name:Jak2 Mutation NGS Analysis
Synonyms:V617F; Exon 12
Methodology:Next generation sequencing
CPT Code:51403, G0452
Turnaround Time:Performed Mon-Fri; results are reported within 10-14 days.


Collection Instructions

Specimen:Blood or bone marrow
Optimal Volume:10 mL blood; 3 mL  bone marrow
Minimum\Peds Volume:3 mL blood; 1 mL bone marrow
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Collection Instructions:Bone marrow clot acceptable for testing.
Causes for Rejection:Frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old.
Shared blood and bone marrow samples will not be accepted unless sent to Molecular Diagnostics first. Contamination will occur on automated hematology analyzers.


Processing and Shipping

Specimen Processing:Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature. Do not refrigerate or freeze.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:See interpretive report.
Use:This test is indicated in the diagnostic workup of a person suspicious for myeloproliferative neoplasm (MPN) and for monitoring disease status. The 2017 WHO diagnostic criteria includes molecular testing for JAK2 V617F or JAK2 exon 12 mutations for PV. A positive JAK2 V617F mutation with other supporting clinical signs means it is likely that the person has an MPN. More than 90% of polycythemia vera (PV) patients and 60% of patients with essential thrombocythemia (ET) or primary myelofibrosis (MF) have a JAK2 V617F mutation.


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