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MPN Profile
Test Code36922
CPT Codes
81450
Preferred Specimen
10 mL peripheral blood or 3 mL bone marrow collected in an EDTA (lavender-top) or a sodium heparin (green-top) tube
Minimum Volume
5 mL peripheral blood • 2 mL bone marrow
Instructions
Do not centrifuge
Transport Temperature
Refrigerated (cold packs)
Specimen Stability
Room temperature: 48 hours
Refrigerated: 15 days
Frozen: Unaccepatble
Refrigerated: 15 days
Frozen: Unaccepatble
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its performance characteristics determined by med fusion. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.
Setup Schedule
Sets up 2 days a week.
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.
