JAK2 V617F mutation analysis

P JAK2

Test Synonym:

Janus Kinase 2 gene, V617F mutation

Test Synonym:

83891 - Isolation or extraction of highly purified nucleic acid

83898 x2 - Amplification of patient nucleic acid, singleprimer pair, each primer pair

83909 x2 - Separation and identification by capillary electrophoresis

83914 - Mutation identification by allele-specific primer extension

83912-26 - interpretation and report

Turnaround Time:

3 days

Methodology:

Allele-specific polymerase chain reaction and capillary gel electrophoresis

Specimen Requirements:

5mL (min. 3mL) EDTA or ACD whole blood

3mL (min. 1mL) EDTA or ACD bone marow

Causes for Rejection:

Improper specimen labeling

Insufficient sample volume

Clotted specimen

Specimen older than 7 days

Specimen Stability:

18°-25° C for 72 hrs; 4° C for up to 7 days

Storage and Handling:

Ship at ambient temperature; cool in summer (do not allow ice pack to directly contact sample)

Reference Range:

V617F mutation detected / not detected

Indication:

A primary diagnostic or reflex test for patients with "Philadelphia negative" (t[9;22]) chronic myeloproliferative disorders. A PCR based assay for the detection of the V617F mutation in the JAK2 gene. DNA, allele-specific PCR is performed targeting exon 12 of the JAK2 gene localized to chromosome 9p.   Results are reported as either Positive (mutation detected) or Negative (mutation not detected) with a positive result interpreted as supportive of the presence of a Philadelphia-negative clonal myeloproliferative disorder.  This acquired mutation has been found in ~97% of patients with polycythemia vera, ~57% of patients with essential thrombocythemia and ~50% of patients with myelofibrosis.

References:

1. Baxter EJ et al.  (2005). Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.  Lancet 365:1054-1061
2. Kralovics et al. (2005). A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders. N Engl J Med 352:;1779-1790