NPM1
Unique Identifier:
ML-H026
Name on Requisition:
NPM1
Product Line:
HEME
Panel Group:
NGS
Methodology
Molecular
NGS
Test Description and clinical significance
Genes
NPM1
Disease:
AML
Nucleophosmin (NPM1) is a multifunctional protein involved in ribosome biogenesis, centrosome duplication, and genomic stability. Mutations in NPM1, most commonly frame-shift insertions in exon 12, are among the most frequent genetic alterations in acute myeloid leukemia (AML). NPM1 mutations define a distinct AML subtype, often associated with normal karyotype, and provide important diagnostic and prognostic information, as well as guidance for risk stratification and therapy decisions. This assay specifically detects clinically relevant mutations in exon 12 of NPM1.
Specimen Requirements
Preparation:
PB, BM
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 or 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. Sufficient quantity of previously extracted DNA is acceptable if stored at appropriate temperature (short term at 2–8oC or long term at -15 to -25 oC) and should be transported on ice.
CPT(s)
81310
New York Approved
Yes
TAT
5
Requisition Type
Heme
Levels of Service
Full
DexS Code
NONE
Prefix
MI
*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.
