JAK2 V617F DNA Screen

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General Information

Lab Name
JAK2 V617F DNA
Lab Code
JAK2
Epic Ordering
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

Forms & Requisitions

Requisition

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

Interpretation

Method

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

Reference Range
See individual components
Guidelines

Ordering & Collection

Specimen Type
Blood, Bone Marrow, Tissue - Fresh, frozen or FFPE/PET (Blocks), 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

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

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

Frequency
Monday, Wednesday and Friday: Results available within 24hrs.
Available STAT?
No

Billing & Coding

CPT codes
81270
LOINC
43399-5
Interfaced Order Code
UOW442