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MPN Mini Profile : 1016704
Test CodeMDFCPMIMPNSEQ or 1016704
Alias/See Also
Myeloproliferative neoplasms; MPN; CALR; JAK2; MPL
CPT Codes
81219, 81270, 81338, 81279
Includes
Includes: JAK2 (V617F, Exon 12, Exon 13, Exon 14), MPL, CALR
Instructions
5 mL Whole Blood collected in a:
lavender top (EDTA) tube or green top (sodium heparin) tube
OR
3 mL Bone Marrow Collected in a:
lavender top (EDTA) tube or green top (sodium heparin) tube.
Transport Container
Lavender top (EDTA) tube
Green top (sodium heparin) tube
Minimum volume:
Whole blood: 3 ml
Bone marrow: 1 ml
Green top (sodium heparin) tube
Minimum volume:
Whole blood: 3 ml
Bone marrow: 1 ml
Transport Temperature
Refrigerated.
Specimen Stability
Ambient: 48 hours; Refrigerated: 15 days; Frozen: Unacceptable
Methodology
Next Generation Sequencing
Setup Schedule
Monday & Thursday
Report Available
8-10 days
Reference Range
Mutation not detected.
Clinical Significance
The MPN mini profile detects disease-defining, potentially targetable mutations in JAK2, CALR, and MPL for myeloproliferative neoplasms. These 3 genes are growth-promoting oncogenes that operate through a signaling pathway mediated by JAK2, and MPNs with these mutations can respond to clinically available JAK2 inhibitors. The inclusion of hot spot mutation testing in these 3 genes into the routine workup of MPNs is recommended by the World Health Organization’s classifications of hemtalogical malignancies and the National Comprehensive Cancer Network (NCCN) guidelines. This combined testing method provides diagnostic assistance, provides a clonal molecular marker of disease following diagnosis and post therapy follow-up, influences prognosis, and identifies those MPNs that may potentially benefit from JAK2 inhibitor therapy.
Performing Laboratory
med fusion
