Hematologic Diseases

Detects MPL mutations, which are found in a subset of myeloproliferative neoplasms (MPN). DNA sequence of exon 10 including W515L/K and S505 is determined using next-generation sequencing (NGS) technology.

disease state indication(s)
Myeloproliferative neoplasms (MPN), essential thrombocythemia (ET), primary myelofibrosis (PMF)

clinical use
MPL mutations are found in approximately 5% of patients with primary myelofibrosis (PMF) or essential thrombocythemia (ET). Detection of MPL mutation is included as one of the major diagnostic criteria for PMF and ET in the WHO classification of hematopoietic neoplasms.

methodology/product platform
Amplicon-based, next-generation sequencing (NGS)

specimen type and requirements
Peripheral blood: 2-3 mL in EDTA (purple-top) tube.
Bone marrow: 2-3 mL in EDTA (purple-top) tube.
Note: Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.

turnaround time
Global (TC & PC): 10-12 days

cpt code(s)
81403 (x1)

medicare moldx cpt code
81450 (x1)

regulatory classification
Laboratory developed test (LDT)

ordering option
Global (TC & PC)