Test to determine if a patient with clinical indications of polycythaemia has a variant in the exon 12 region of the JAK2 gene.
Genetics - Molecular Oncology
2x EDTA (Lavender) dedicated to Genetics
Send to MONC
Negative for JAK2 V617F mutation
Low serum erythropoietin level
Hb >185/165 g/L (male/female)
8 ml peripheral blood in EDTA. 1-3 ml of bone marrow in EDTA or RPMI (anticoagulant). Send ambient to the laboratory.
NOTE: As of February 2022 requests for JAK2 exon 12 mutation analysis will be processed through the Myeloid NGS Panel. All variants will be detected in JAK2 exon 12 with a sensitivity of 5%. Please refer to the Myeloid NGS Panel in Test Manager for more details and price.
JAK2 exon 12 mutation assay: PCR using primers that span the region commonly associated with acquired JAK2 exon 12 mutations, followed by fragment analysis using capillary electrophoresis, and allele-specific PCR. Approximately 80% of all currently known JAK2 exon 12 mutations are detected by this method including those commonly associated with polycythaemia.
$727.81 (Exclusive of GST)
Limit of detection approximately 1 abnormal cell in 20.
Approximately 80% of all currently known JAK2 exon 12 mutations are detected by this method including those commonly associated with polycythaemia.
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