Laboratory Test Guide

JAK2 V617F DNA Screen

General Information

Lab Name

JAK2 V617F DNA

Lab Code

JAK2

Epic Name

JAK2 V617F DNA

Description

JAK2 V617F testing is performed by allele-specific multiplex PCR using purified genomic DNA followed by detection by capillary electrophoresis and is a qualitative, not quantitative assay.

The somatic point mutation V617F in the JAK2 tyrosine kinase gene (JAK2V617F) has been associated with several chronic myeloproliferative disorders, including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).

This assay assesses only the JAK2 V617F variant and not exon 12 or other variants in JAK2. If indicated, consider JAK2 single gene sequencing.

Limit of Detection: 2.5%

Please complete a Hematopathology test request form found at Request Form

Synonyms

Essential Thrombocythemia, ET, Idiopathic Myelofibrosis, JAK2 Val617Phe mutation, Janus tyrosine kinase 2, Myelofibrosis, Myeloproliferative Disorder, PMF, Polycythemia, Polycythemia Vera, PV

Components

Code	Name
JAKSD	JAK2 V617F Specimen Description
JAKRES	JAK2 V617F Results
JAKINT	JAK2 V617F Interpretation
JAKMTH	JAK2 V617F Method
JAKGRN	JAK2 V617F Case Number

Interpretation

Method

PCR amplification of JAK2 from genomic DNA, specific for V617F point mutation

Reference Range

See individual components

Guidelines

Molecular Testing for Hematopoietic Disorders

Ordering & Collection

Specimen Type

Blood, Bone Marrow, Fresh or Frozen Tissue, Fluids, Slides, Sorted cells

Collection

Preferred:
Blood: 6mL in Lavender Top (EDTA)

Bone Marrow: 1-2mL in Lavender Top (EDTA)

Tissue, Fluids or Sorted cells: Sterile container in RPMI

Formalin-fixed paraffin embedded tissue (FFPE/PET) block

Slides: 10 unstained PB or BM aspirate smears

Accepted:
Green Tops (Heparin), while green tops are accepted for testing, there is documentation that heparin can interfere with some PCR assays.

Extracted DNA from CLIA certified laboratory.

Formalin-fixed paraffin embedded tissue (FFPE/PET)

Tissue from curls cut from FFPE/PET blocks or stained cover-slipped slides

Unacceptable:
Specimens received beyond stability limit.
Specimens with low volume or inadequate WBC
Decalcified or unacceptable fixatives

Forms & Requisitions

Requisition

Handling Instructions

Deliver samples to Hematopathology as soon as possible.
If sample is older than 48 hours, please store at 2-6°C upon receipt and send refrigerated.
Samples stored at room temperature or refrigerated older than 7 days will be rejected.
Frozen samples should be shipped on dry ice.

Quantity

requested: Blood: 6mL EDTA/BMA: 1-2mL EDTA/Tissue Blocks: Adequate size to cut 10-20 curls/Slides: 10 unstained
minimum: Blood: 1mL EDTA/ BMA: 0.5mL EDTA/Tissue Blocks: 5 curls/Slides: 5 slides

Processing

Send specimens to Hematopathology – Molecular department for processing.
The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected.

Performance

LIS Dept Code

Molecular Hematopathology (MHP)

Performing Location(s)

Other	Hematopathology, Molecular 206-606-7060 UW Hematopathology Laboratory, G7-800 Fred Hutchinson Cancer Center 825 Eastlake Avenue E. Seattle, WA 98109	Hematopathology, Molecular hours: 7:00 am - 5:30 pm M-F 8:00 am - 4:30 pm Saturday, closed on Sunday, and with reduced staffing on major holidays