NPM1 Mutation Analysis
Methodology
Molecular
Test Description and clinical significance
Genes
NPM1
Disease:
Cytogenetically normal-Acute Myeloid Leukemia (CN-AML), Acute promyelocytic leukemia (APL), and anaplastic large cell lymphoma (ALCL)
Next generation sequencing of gene panel. The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed.
Specimen Requirements
Collection:
At least 0.5 ml EDTA, citrate (ACD) or Heparinized whole blood or bone marrow aspirates for DNA mutations
Stability:
96hours/4 to 7 days refrigerated
Unacceptable Conditions:
Specimen submitted is in the incorrect fixative or anticoagulant. Specimen received after the stability date. Gross hemolysis. Frozen specimen. Insufficient specimen. Unlabeled. Left un-refrigerated for an extended period.
Storage & Transport
Blood, bone marrow specimens should be kept at room temperature and preferably received within 96 hrs of drawing. Samples that are 4 to 7 days old should be refrigerated.
CPT(s)
81310
New York Approved
NO
TAT
10 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
