Janus Tyrosine Kinase 2 (JAK2 V617F c. 1849 G>T) Gene Qualitative Mutation Analysis

Methodology: 
Real-time PCR
Performed: 
Monday - Friday
Reported: 
7 days
Use: 
This test is typically ordered to diagnose myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia or primary myelofibrosis.
Specimen Requirements: 

Blood or bone marrow in (lavender top) EDTA or (yellow-top) ACD tube; one 3 mL of blood or 1 mL bone marrow shipped at 4° C is accepted. Severely hemolyzed whole blood or clotted/frozen blood/bone marrow specimen is not accepted.

Cell pellets with at least 10^6-cells, shipped at 4° C, are acceptable

Reference Values: 

Negative (interpretative report provided)

Interpretation Data: 
JAK 2
  • Positive: JAK 2 V617F mutation is detected.
  • Negative: JAK 2 V617F mutation is not detected.

A JAK 2 positive indicates the JAK2 mutation at codon 617 is present in the patient’s blood/bone marrow sample; however, a negative result does not necessarily exclude the presence of other JAK2 mutations, such as exon 12/13, or the mutation is less than 2% in the sample. Exon 12/13 mutation analysis is suggested when the JAK 2 V617F is negative.

  • Unacceptable Conditions:
    • Ambient: Specimens greater than 24 hours old
    • Frozen specimens
  • Stability (collection to initiation of testing):
    • Ambient: 24 hours
    • Refrigerated: 72 hours
CPT Code (s): 
  • 83907
  • 83891
  • 83892
  • 83896 x 2
  • 83898 x 2
  • 83905
  • 83912
Notes: 

UFHPL Test #: 10115

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