NPM1 Insertion Mutation DNA Screen
General Information
Lab Name
NPM1 Qualitative Screen
Lab Code
NPM1
Epic Name
NPM1 Insertion Mutation
Description
This qualitative test detects insertion mutations in NPM1 gene and is intended for new diagnosis testing, not post-treatment minimal residual disease monitoring. Purified genomic DNA is amplified by PCR and then size-fractionated by capillary electrophoresis.
Insertion mutations in exon 12 of the NPM1 gene on chromosome 5 cause abnormal cytoplasmic localization of the NPM1 protein and have been identified in 35-50% of adult acute myeloid leukemia (AML) and in 50- 60% of AML cases having normal karyotype (AML-NK). In the absence of FLT3 internal tandem duplication (ITD) mutations, the presence of NPM1 mutations in AML-NK has been associated with better response to induction therapy and favorable overall survival.
In the post-treatment context, consider NPM1 Insertion Mutation by NGS (NPM1NG), not this assay for increased analytic sensitivity.
Please complete a Hematopathology test request form found at Request Form
Synonyms
Acute Myeloid Leukemia, AML, NPM, NPM 1, NPM-1, Nucleophosmin
Components
| Code | Name |
|---|---|
| NPMSD | NPM1 Specimen Description |
| NPMRES | NPM1 Insertion Mutation Result |
| NPMINT | NPM1 Interpretation |
| NPMMTH | NPM1 Methods and Info |
| NPMGRN | NPM1 by NGS Case Number |
Interpretation
Method
PCR amplification of exon 12 of the NPM1 gene for detection of insertion mutation
Reference Range
See individual components
Guidelines
Ordering & Collection
Specimen Type
Collection
Preferred:
Blood: 6mL in Lavender Top (EDTA)
Bone Marrow: 1-2mL in Lavender Top (EDTA)
Tissue, Fluids or Sorted cells: Sterile container in RPMI
Formalin-fixed paraffin embedded tissue (FFPE/PET) block
Slides: 10 unstained
Accepted:
Green Tops (Heparin), while green tops are accepted for testing, there is documentation that heparin can interfere with some PCR assays.
Extracted DNA from CLIA certified laboratory.
Formalin-fixed paraffin embedded tissue (FFPE/PET)
Tissue from curls cut from FFPE/PET blocks or stained cover-slipped slides
Unacceptable:
Specimens received beyond stability limit.
Specimens with low volume or inadequate WBC
Decalcified or unacceptable fixatives
Forms & Requisitions
Handling Instructions
- Deliver samples to Hematopathology as soon as possible.
- If sample is older than 48 hours, please store at 2-6°C upon receipt and send refrigerated.
- Samples stored at room temperature or refrigerated older than 7 days will be rejected.
- Frozen samples should be shipped on dry ice.
Quantity
requested: Blood: 6mL EDTA/BMA: 1-2mL EDTA/Tissue Blocks: Adequate size to cut 10-20 curls/Slides: 10 unstained
minimum: Blood: 1mL EDTA/ BMA: 0.5mL EDTA/Tissue Blocks: 5 curls/Slides: 5 slides
Processing
Send specimens to Hematopathology – Molecular department for processing.
The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected.
Performance
LIS Dept Code
Molecular Hematopathology (MHP)
Performing Location(s)
| Other |
Hematopathology, Molecular
206-606-7060 UW Hematopathology Laboratory, G7-800 |
Hematopathology, Molecular hours: |
|---|
Frequency
Testing daily Monday - Saturday, results within 24hrs. EVALHD reflexed or add-on orders may take up to 5 days to complete.
Available STAT?
No