JAK2 V617F DNA Screen
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
- 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
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
- 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
206-606-7060UW Hematopathology Laboratory, G7-800
Fred Hutchinson Cancer Center
825 Eastlake Avenue E.
Seattle, WA 98109Hematopathology, 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