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MPN Profile : 1016121
Test CodeMDFCPMPNSEQ or 1016121
Alias/See Also
Myeloproliferative neoplasms; MPN; CALR; CBL; CSF3R; JAK2; MPL; SETBP1; TP53; calreticulin; ASXL1; EZH2; IDH1; IDH2; SRSF2
CPT Codes
81450
Includes
Includes: CALR, CBL, CSF3R, JAK2 (V617F, Exon 12, Exon 13, Exon 14), MPL, SETBP1, TP53, ASXL1, EZH2, IDH1, IDH2, SRSF2
Instructions
Peripheral Blood in a lavender top (EDTA) tube and/or a green top sodium heparin tube.
OR
Bone Marrow in a lavender top (EDTA) tube and/or a green top sodium heparin tube.
OR
Bone Marrow in a lavender top (EDTA) tube and/or a green top sodium heparin tube.
Transport Container
Submit 5-10 mL Blood in a lavender top and/or 5-10 mL Blood in a green top.
OR
Submit 2-3 mL Bone Marrow in a lavender top and/or 2-3 mL Bone Marrow in a green top.
Do not centrifuge.
OR
Submit 2-3 mL Bone Marrow in a lavender top and/or 2-3 mL Bone Marrow in a green top.
Do not centrifuge.
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
An interpretive report will be provided An integrated report with results from all tests along with relevant diagnostic, prognostic and clinical trial information.
Clinical Significance
Helps physicians diagnose and predict the course of disease progression for hematologic diseases.
In the updated WHO Classification of Hematologic Malignancies (2016), the major diagnostic criteria for several different myeloproliferative neoplasms require the presence of specific gene mutations with supporting clinical and morphologic features. The JAK2 V617F mutation is found in virtually all cases of Polycythemia Vera (PV), with rare cases harboring a JAK2 exon 12 mutation. Mutations in JAK2 V617F, MPL codon 515 and CALR exon 9 are also major diagnostic criteria for Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). Activating mutations in CSF3R (e.g T618I) are now included as diagnostic criteria for Chronic Neutrophilic Leukemia (CNL). Furthermore, SETBP1 mutations are found in a subset of BCR-ABL1 negative, atypical Chronic Myeloid Leukemia, (aCML) cases that lack mutations in JAK2, MPL, and CALR. The release of the v. 2.2017 NCCN Guidelines for MPNs further recommend testing for gene mutations in ASXL1, EZH2, IDH1, IDH2 and SRSF2 for risk stratification in primary myelofibrosis.
In the updated WHO Classification of Hematologic Malignancies (2016), the major diagnostic criteria for several different myeloproliferative neoplasms require the presence of specific gene mutations with supporting clinical and morphologic features. The JAK2 V617F mutation is found in virtually all cases of Polycythemia Vera (PV), with rare cases harboring a JAK2 exon 12 mutation. Mutations in JAK2 V617F, MPL codon 515 and CALR exon 9 are also major diagnostic criteria for Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). Activating mutations in CSF3R (e.g T618I) are now included as diagnostic criteria for Chronic Neutrophilic Leukemia (CNL). Furthermore, SETBP1 mutations are found in a subset of BCR-ABL1 negative, atypical Chronic Myeloid Leukemia, (aCML) cases that lack mutations in JAK2, MPL, and CALR. The release of the v. 2.2017 NCCN Guidelines for MPNs further recommend testing for gene mutations in ASXL1, EZH2, IDH1, IDH2 and SRSF2 for risk stratification in primary myelofibrosis.
Performing Laboratory
med fusion
