Janus Kinase 2 (JAK2) V617F Mutation Testing

Alternate test name

JAK2 V167F Mutation Detection and Normalized Mean Ratio Determination

Gene name / Alternate gene name

JAK-2, JTK10, and tyrosine-protein kinase JAK2

Lab area

Haematopathology - Molecular

Method and equipment

Real Time PCR for the detection of JAK2 (NM_004972.4) c.1849G>T (p.Val617Phe) with the use of the Ipsogen QIAgen JAK2 MutaScreen kit and StepOne Plus real-time PCR instruments.

Expected turn-around time

3 Business Days

Specimen type

Bone Marrow Aspirate or Blood in EDTA (Lavender top tube) at room temperature (minimum 2mL).

Specimen requirements

Bone Marrow Aspirate or Blood in EDTA (Lavender top tube) at room temperature (minimum 2mL).

Storage and transportation

Keep Specimen at Room Temperature.

Shipping information

The Hospital for Sick Children

Rapid Response Laboratory

555 University Avenue, Room 3642

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200

Toll Free: 1-855-381-3212

Hours: 7 days/week, 24 hours/day

Requisition

Janus Kinase 2 (JAK2) V617F Mutation Testing - requisition

Background and clinical significance

The JAK2 V617F mutation is a specific genetic alteration in the JAK2 gene, commonly found in myeloproliferative neoplasms (MPNs). It involves a single nucleotide change, resulting in the substitution of valine with phenylalanine at position 617 of the JAK2 protein. This mutation leads to a constitutively active JAK2 protein by disrupting the normal regulatory mechanism of the JAK2 protein, causing uncontrolled blood cell production. A positive JAK2 V617F mutation test can help diagnose MPNs and guide treatment decisions. The level (Allele Burden or Normalized Mean Ratio) of the JAK2 V617F mutation can also be a prognostic factor, indicating the severity or progression of the disease.