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Test Code FH NPM1 NPM1 DNA Analysis

Clinical System Name

NPM1 DNA Analysis


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). This test should be performed on AML patients at diagnosis. The literature suggests that NPM1 mutations may be useful as molecular targets for detecting minimal residual disease in AML.

Sample Requirements

Specimen:  Whole Blood or Bone Marrow

Container(s):  Lavender/EDTA (preferred) or Dk Green/Sodium Heparin

Preferred Vol:  6 mL blood; 1-2 mL bone marrow

Minimum Vol:  no micro collection


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 .

Processing Instructions

Reject due to:  wrong anticoagulant

Spin:  NO

Aliquot:  NO

Temp:  refrigerate

Notes:  Affix large label to vacutainer.  Deliver extra labels and copy of requisition to clear plastic box attached to CPA freezer.  Notify sendouts tech so sample can be transported on next available SCCA shuttle.  After hours and on weekends, store sample in sendouts refrigerated rack to be sent next weekday.

Storage location:  Store sample in CPA refrigerator sendouts rack.


Off-site collection:  Contact UW Hematopathology at (206) 288-7060 for instructions.


Specimen Type Temperature Time
  Room temp 1 day
  Refrigerated 4 days
  Frozen NO



STAT Performed TAT
N As needed. 7 working days


Performing Laboratory

UW Hematopathology


Department:  UW Molecular Hematopathology Laboratory, 825 Eastlake Ave E, Seattle, WA, 98195

Phone Number:  (206) 288-7070


Reference Range

none specified


Method:  PCR

Analytical Volume:  None specified

Limitations:  None specified

CPT Codes


Special Instructions

Links to:

Consent Forms



Place test orders in CIS.

For bone marrow, use CIS order "HemOnc Bone Marrow Requisition" or "Hematopoietic Transplant Marrow Requisition", as appropriate.

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.

Send Out Instructions


Reference Test Name: NPM1 DNA Analysis
Reference Test Number: None specified
Instructions: Send on next available shuttle to UW Molecular Hematopathology 825 Eastlake Ave. If provider desires for same day set up sample must reach UW Hematopath by 830 am.