NPM1 Quantitative for MRD
General Information
Lab Name
NPM1 Quantitative for MRD
Lab Code
NPM1NG
Epic Name
NPM1 Insertion Mutation by NGS
Description
This quantitative test detects common insertion mutations in NPM1 gene and is intended for post-treatment minimal residual disease monitoring in NPM1-mutated AML. Purified genomic DNA is PCR amplified using double- indexed primers coupled with sequencing adaptors for subsequent next generation sequencing using an Illumina Miseq platform.
Reportable Range: 0.007 – 50.00%
Limit of Detection: 0.003%
Limit of Quantification: 0.007%
Precision near LOD (CV): 54%
Hematopathology test request form can be found at Request Form.
Synonyms
Acute Myeloid Leukemia, AML, NPM, NPM-1, NPM1, NPM1 Exon 12 Insertion mutation, Nucleophosmin
Components
| Code | Name |
|---|---|
| NPM1SD | NPM1 by NGS Specimen Descr. |
| NPM1RS | NPM1 by NGS Result |
| NPM1MP | NPM1 by NGS Mutation % |
| NPM1V | NPM1 by NGS Insertion Variant |
| NPM1IN | NPM1 by NGS Interpretation |
| NPM1M | NPM1 by NGS Method |
| NPM1GR | NPM1 by NGS Case Number |
Interpretation
Method
PCR Amplification then Next Generation Sequencing
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.
Specimens must be received in lab by 7am on Wednesday to be included on run.
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
Performed once weekly on Wednesdays; results may take up to 10 days.
Available STAT?
No