|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
MPN Profile
Test Code36922
CPT Codes
81450
Preferred Specimen
10 mL peripheral blood collected in an EDTA (lavender-top) tube, or sodium heparin (green-top) tube
Minimum Volume
5 mL peripheral blood • 2 mL bone marrow
Other Acceptable Specimens
3 mL bone marrow collected in an EDTA (lavender-top) tube, or sodium heparin (green-top) tube
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
Setup Schedule
Monday, Thursday Morning
Report available: 8 Days
Report available: 8 Days
Reference Range
See Laboratory Report
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.
