JAK2 Single Gene by NGS
| Sunquest Code: | JAK2SG | ||
| Epic Code: | LAB8045 | Epic Name: | Jak2 Mutation NGS Analysis |
| Synonyms: | V617F; Exon 12 | ||
| Methodology: | Next generation sequencing | ||
| 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. |
| Stability: | Whole blood samples are stable for 5 days 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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