NPM (Exon 12) Mutation Analysis, Cell-based

Last Modified: 8/31/2023 3:18:48 PM


Medical Necessity Documentation:  
Client Notes:  
Patient Preparation:  
Specimen Requirements: 4.0 mL Whole Blood in a Lavender Top Tube - EDTA
Collection Instructions: Submission of whole blood is preferred: Follow standard whole blood collection procedure. Collect 3-5 mL whole blood samples in EDTA tube. Blood samples are shipped at room temperature or 4ºC. Do not freeze whole blood. Record the draw time and date on the tube. Ship immediately to maintain sample stability.
Minimum Volume: 1.0 mL Whole Blood
Transport & Storage: Temperature/Stability: Room temperature: 7 days transport
Refrigerated: 7 days
Frozen: Unacceptable
Rejection Criteria: Frozen Whole Blood;
Reference Range: Not detected
Critical Ranges:  
Test Comments:  
Methodology: Fragment Analysis
Clinical Significance: Acute Myeloid Leukemia (AML) is a clinically heterogeneous disease. Recurrent cytogenetic abnormalities help define subgroups with different prognosis and identify patients whom might benefit from targeted therapies. However, almost half adults AML cases display a normal karyotype by conventional cytogenetics, and the clinical and molecular features of this large subgroup of patients are poorly understood. The NPM exon 12 mutation can serve as predictor in AML cases with a normal karyotype, good response to induction chemotherapy and as a marker for monitoring of minimal residual disease. NPM exon 12 mutations are AML-specific since they are not detected in normal cells or other neoplasms
Documentation:  
Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 4 days
Days Performed: Tuesday, Friday
Sites Performed: Quest - Chantilly to San Juan Capistrano
PHL Test Code: NPM12
EPIC Test Code: LAB3063
Send Out Test Code: 16158
Alternate Test Names: NPM (Exon 12) Mutation; NPM (Exon 12) Mutation Analysis; NPM Mutation, Cell-Based; Nucleophosmin, Acute Myeloid Leukemia (AML)
Included Tests:  
CPT Coding: 81310

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