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HelpJAK2 V617F DNA Screen
Clinical System Name
Miscellaneous Genetic Test
Synonyms
ET
Essential Thrombocythemia
Idiopathic Myelofibrosis
JAK2 V617F
JAK2 Val617Phe mutation
Janus tyrosine kinase 2
Myelofibrosis
Myeloproliferative Disorder
PMF
Polycythemia
Polycythemia Vera
PV
Sample Requirements
Specimen Blood: 6mL in Lavender Top (EDTA): Minimum 1mL EDTA
Bone Marrow: 1-2mL in Lavender Top (EDTA); Minimum 0.5mL EDTA
Tissue, Fluids or Sorted cells: Sterile container in RPMI
Formalin-fixed paraffin embedded tissue (FFPE/PET) block
Slides: 10 unstained; Minimum: 5 curls/Slides
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
Processing Instructions
Reject due to: Decalcified or unacceptable fixatives
Spin: N
Aliquot: N
Temp: 2 - 8 C; DO NOT FREEZE
Notes: Bone marrow or peripheral blood: Ship at ambient temperature within 24 hours of collection.
Storage Location: Store sample in CPA 3 refrigerator, Send Outs rack.
Off-site Collection: Send whole blood refrigerated. Optimal results are achieved when samples are received within 72 hours of collection.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room temp | 48 h |
| Whole Blood | Refrigerated | 7 d |
| Whole Blood | Frozen | N |
| Extracted DNA | Room temp | 3 - 4 d |
| Extracted DNA | Refrigerated | 1 y |
| Extracted DNA | Frozen | Indefinitely |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | T, Th | 10 d |
Performing Laboratory
Molecular Hematopathology Laboratory
University of Washington
825 Eastlake Ave E
Seattle, WA, 98195
Phone Number: (206) 288-7060
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
Method: PCR amplification of JAK2 from genomic DNA, specific for V617F point mutation
Analytical Volume: 1.0 mL Whole Blood or 0.5 mL Bone Marrow
Limitations: If you would like reflexive testing, please order JAK2 V617F DNA Reflexive - test will initially test for JAK2 V617F; if negative, will reflex to screen for CALR exon 9 mutations. If JAK2 and CALR negative, will reflex to MPL mutation
Reference Range
Interpretive report provided.
Send Out Instructions
| Reference Lab Test Name: |
JAK2 V617F DNA Screen |
| Reference Lab Test Number: | JAK2 |
| Instructions: |
Send on next available shuttle to UW Hematopathology Laboratory. |
Clinical Utility
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).