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HelpTest Code LAB3354 NPM1 DNA Screening Analysis
Additional Codes
NPM1
Clinical System Name
NPM1 DNA Screening Analysis
Description
This qualitative test detects insertion mutations in NPM1 and is intended for new diagnosis testing only, 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 setting, NPM1 Insertion Mutation by NGS (NPM1NG) is the appropriate test for MRD monitoring.
Clinical Utility
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 our assay purified genomic DNA is amplified by PCR and then size-fractionated by capillary electrophoresis.
Sample Requirements
Specimen: Whole Blood or Bone Marrow
Container(s): Lavender/EDTA (Preferred) or Dk Green/Sodium Heparin
Preferred Vol: 6.0 mL Whole Blood OR 1.0 - 2.0 mL Bone Marrow
Minimum Vol: 1.0 mL Whole Blood OR 0.5 mL Bone Marrow
Note: Record specimen type and date/time of collection on label.
While green top tubes are accepted for testing, there is documentation that heparin can interfere with some PCR assays.
For more detailed info for bone marrow testing, see separate Bone Marrow Aspirate listing .
Specimen:
Tissue, Fluids or Sorted cells: Sterile container in RPMI
Formalin-fixed paraffin embedded tissue (FFPE/PET) block
Slides: 10 unstained
Pathology should be consulted before ordering testing on FFPE specimens.
Processing Instructions
Reject due to: Specimens received beyond stability limit, specimens with low volume or inadequate WBC, decalcified or unacceptable fixatives
Spin: N
Aliquot: N
Temp: 2 - 8 C
Notes: Affix a large Epic label to the vacutainer. After hours and on weekends, store sample in Send Outs refrigerated rack to be sent next weekday.
Storage Location: Store sample in CPA refrigerator Send Outs rack.
Off-site Collection: Contact UW Hematopathology at (206) 288-7060 for instructions.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood & Bone Marrow | Room Temp | 48 h |
| Refrigerated | 7 d | |
| Frozen | Unacceptable |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | M - F | 7 d |
Performing Laboratory
University of Washington
Molecular Hematopathology Laboratory at SCCA
825 Eastlake Ave E, G7-800
Seattle, WA, 98195
Phone Number: (206) 288-7070
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
Method: PCR amplification of exon 12 of the NPM1 gene for detection of insertion mutation
Limitation: This test is not intended to be used for minimal residual disease (MRD)
Reference Range
See laboratory report.
Send Out Instructions
| Reference Test Name: | NPM1 Insertion Mutation DNA Screen |
| Reference Lab Test Code: | NPM1 |
| Instructions: | Send out Monday through Friday with the UW courier. |