Test Directory

Test Code
NPM1
Test Name
NPM1 Minimal Residual Disease Analysis
Clinical Utility
  • NPM1 MRD analysis is performed by PCR and fragment analysis of exon 12 of the NPM1 gene to detect small insertion mutations.
  • High sensitivity testing to detect residual NPM1 mutation in AML may be useful for further refining prognosis and for early detection of relapse.
Specimen and Container Info

Specimen

Container

Preferred Volume

Minimum Volume

Peripheral Blood

Lavender Top (EDTA)

5 mL

3 mL

Bone Marrow

Lavender Top (EDTA)

2 mL

1 mL

FFPE tissue

Paraffin Block

Paraffin Block

1 H&E slide plus 5-10 unstained slides cut at 5 or more microns

Collection Instructions

 Specimen should only be collected if a previous positive result was obtained.

Transport Instructions

Transport to laboratory refrigerated.

Stability Requirements

Refrigerated

 72 hours

Causes for Rejection
  • Frozen specimens
  • Incorrect collection containers 
Methodology
Molecular
Limitations

The lower limit of detection of mutated NPM1 in this assay is 0.5%. Positive results are reported quantitatively if the percentage of mutated DNA is greater than or equal to 1% and they are reported qualitatively if less than 1%.

Performing Location
Roble Road Core Laboratory
Alternate Names
  • NPM1 MRD Testing
  • Nucleophosmin (Nucleolar Phosphoprotein B23) MRD testing
Reference Lab
Laboratory For Personalized Molecular Medicine, LLC.
Testing Schedule
Routine, Monday - Friday no holidays