Test to determine if a patient with clinical indications of a myeloproliferative disorder has a JAK2 p.(Val617Phe) variant (also known as JAK2 V617F).
Genetics - Molecular Oncology
1x EDTA (Lavender) dedicated to Genetics (only one tube needed for JAK2/CALR/MPL testing)
Send to MONC
JAK2 V617F PCR
4 ml peripheral blood in EDTA.
The acquisition of a JAK2 V617F mutation within an erythroid/myeloid progenitor is associated with many (but not all) myeloproliferative disorders: polycythaemia vera (96% cases), essential thrombocythaemia (60-65% cases) and primary myelofibrosis (60-65% cases).
Patients negative for a JAK2 V617F variant : for those with erythrocytosis and low erythropoietin (typically <5 mIU/ml) consider JAK2 exon 12 mutation analysis and for those with essential thrombocythaemia or primary myelofibrosis consider calreticulin and MPL mutation analysis.
Result reported as “Detected” or “Not detected”. If mutation is detected the % mutant load (% mutant copies over total JAK2 gene copies) is reported.
Droplet digital PCR using the Bio-Rad PrimePCR ddPCR Mutation Detection Assay for JAK2 p.Val617Phe [NM_004972.3 (JAK2):c.1849G>T (p.Val617Phe)].
Limit of Detection: 0.1% mutant copies over total JAK2 gene copies.
$100.84 (Exclusive of GST)
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