JAK2V617F Mutation Analysis, Qualitative

Also known as: JAK2 V617F (Exon 14 Mutation), Janus Kinase 2V617F Mutation Detection

Clinical Use

Use

The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one- half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). The V617F mutation has also been detected, although infrequently, in other myeloid disorders, such as chronic myelomonocytic leukemia and chronic neutrophilic leukemia.

Special Instructions

Not provided.

Limitations

This test only detects the nucleotide change encoding the V617F mutation within JAK2; other mutations within the JAK2 gene are not detected. Sensitivity is approximately 5% for detecting cells with the JAK2 mutation amidst nonmutant cells. A negative result does not rule out chronic myeloproliferative disorders or other neoplastic processes. The test was developed by Labcorp and is not FDA cleared or approved.

Test Details

Methodology

PCR-based (Allele-specific polymerase chain reaction (PCR); capillary electrophoresis)

Biomarkers

No genes

Gene

V617F Exon 14 Mutation

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

43399-5 - JAK2 p.V617F Bld/T Ql

Result Codes

43399-5 - JAK2 p.V617F Bld/T Ql
77202-0 - Laboratory comment Report
72486-4 - Lab director name Provider

Result Turnaround Time

5-7 days

Specimen

Whole Blood

Volume

3 to 5 mL

Minimum Volume

3 mL

Container

Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube

Storage Instructions

Ship specimen at room temperature. Specimen should arrive in the laboratory within 48 hours of collection. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Indicate date and time of collection on the test request form.

Causes for Rejection

Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material