Who would request this test?
   Oncologists or Pathologists

How to order the test?
   Contact Client Services – 866-844-2522 or
   Refer to the Bone Marrow Aspirate or Whole Blood test entries for the NPM1 Mutation Quantitative, MRD Monitoring and Interpretation test in the UIDL Test Directory

Key features to note:

• Testing is to monitor levels of mutant NPM1 transcripts (type A, -TCTG- sequence duplication) during treatment in patients with NPM1-mutated acute myeloid leukemia and assess minimal residual disease (MRD).
• The new assay uses reverse transcription, droplet digital polymerase chain reaction (RT-ddPCR) for quantification of the NPM1 type A (-TCTG- sequence duplication) normalized to ABL1 control gene expression.
• The limit of quantitation is 0.005% NPM1/ABL1 ratio. Positive results less than 0.005% NPM1/ABL1 will be reported as Trace Positive.
• There are minimum ABL1 values for the new assay that must be met to reliably report negative results; values below that will be indicated as an insufficient specimen.
• Patients with non-type A NPM1 variants can be tested using an alternative quantitative assay.Please indicate if the NPM1 mutant sequence is type A (-TCTG-) or not.

Method: The NPM1 Mutation Quantitation assay uses multiplex reverse transcription in combination with droplet digital PCR technology. The type A NPM1 duplications occur in most AML cases. The assay can reliably detect 1 tumor cell in a background of 20,000 normal cells. The limit of quantitation is 0.005% NPM1/ABL1 ratio.

Results Reported:  NPM1 Quant % ratio of mutant NPM1 to control RNA transcript copies.