JAK2 Exon 12 Mutation Screen
Test Identifier Information | |
Registration Code | MONC |
Method | 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 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. |
Diagnostic Use / Indications | Most patients present with significantly raised hemoglobin levels, and a distinctive histological appearance of the bone marrow. Indications are all of the following: JAK2 V617F negative on PB; Hb >185/165 g/L (male/female); low EPO (<5 mIU/ml); no secondary causes. Only samples meeting these criteria will be tested for JAK2 exon 12 mutations. |
External Price | $679.47(Exclusive of GST) |
Specimen Collection | |
Pre-Testing Requirements | Negative for JAK2 V617F mutation. Low serum erythropoietin level Hb >185/165 g/L (male/female) |
Patient Specimen | 5-10ml PB in EDTA or 1 ml BM |
CHLabs Laboratory | |
Department | Biochemistry - Molecular Oncology |
Contact Details |
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Contact Phone Number | 03 3786 008 / x86008 |
Turnaround Time | 20 working days |
Uncertainty of Measurement | 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. |
Delphic Number Test Number | 8389 |