NPM1 Mutation Analysis
Use
NPM1 (nucleophosmin) mutation is one of the most common recurring genetic lesions in acute myeloid leukemia (AML). This AML type frequently has myelomonocytic or monocytic features and typically presents de novo in older adults with a normal karyotype. Prevalence increases with age, occurring in 2% to 8% of childhood AML and 27% to 35% of adult AML. The most common mutations, a 4-bp duplication at c.860_863 (exon 11) or insertion at c.863_864 (exon 11), accounts for 90% to 95% of NPM1 mutations. NPM1 mutations in absence of FLT3-ITD identify a prognostically favorable subgroup.
Special Instructions
Please direct any questions regarding this test to customer service at 800-345-4363.
Limitations
This assay can detect the 4-base pair duplication or insertion in exon 11 in approximately 5% of cells among a background of non-mutant cells. It will not detect mutations below this sensitivity threshold or other types of NPM1 mutations.
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 54448-6
- 77202-0
- 49549-9
- 75608-0
- 48672-0
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube, or pink-top (K2-EDTA) tube
Collection Instructions
Submit at room temperature. Indicate date and time of collection on test request form.
Storage Instructions
Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Quantity not sufficient for analysis; hemolysis; frozen specimen; clotted blood specimen