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NPM1 Exon 12 Mutations, Qualitative

Item Value
Approval req'd? No
Available Stat? No
Utilization Guidelines Tests with long turn-around times (i.e., Molecular based tests and Microarrays) should only be requested on an inpatient if the result is going to affect the inpatient management. If the patient will likely be discharged before the result will be available, the test should be requested after discharge. (NOTE: UCSF Medical Center is not reimbursed for inpatient testing).

An exception to the above may be appropriate if there is a possibility the patient will not survive to be discharged and the information is important for diagnosis and/or family decisions/management (e.g., recurrence risk).
Test code NPM1
Test group AML molecular markers
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 1st and 3rd Tuesday of every month, day shift only
Method Fluorescent PCR with analysis by capillary electrophoresis
Collection Instructions Avoid hemolysis. Due to stability issues these samples should only be collected at UCSF Monday through noon Friday.

Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.

For UCSF Samples (from remote sites) Click here for sample collection instructions

For NON-UCSF Samples Click here for Requisition form & Account set-up instructions. Note we only do institutional billing.
Container type Lavender top (EDTA)
Amount to Collect
Blood 5 mL
Bone marrow aspirate 3 mL
FFPE 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Sample type Blood, bone marrow aspirate, FFPE sections
Preferred volume
Blood 5 mL
Bone marrow aspirate 3 mL
FFPE 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Min. Volume
Blood 2 mL
Bone marrow aspirate 3 mL
FFPE 10 micron sections x3 on uncharged, unstained, glass slides plus one H&E stained section
Processing notes Do not freeze blood or bone marrow samples. Ship to CB as soon as possible.
Normal range Negative
Synonyms Nucleophosmin; nucleolar phosphoprotein B23; numatrin; NPM-1
Stability Room temperature 3 days, refrigerated 1 week, frozen unacceptable.
Turn around times 10-14 days
Additional information An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

Mutations in exon 12 of NPM1 are the most frequent molecular alterations in AML with normal karyotype, found in 60% of AML cases (one third of adult cases). This mutation causes mislocalization of NPM1 and its aberrant accumulation in the cytoplasm. NPM1 mutations are associated with other recurrent genetic changes, including chromosome abnormalities such as +8, +4, del(9q), and additional gene mutations, most importantly in FLT3.

Prognosis of cytogenetically normal AML with NPM1 mutations, particularly in the absence of FLT3 internal tandem duplication (ITD) mutation, is favorable when treated with high dose daunorubicin chemotherapy (Patel et al, N Engl J Med. 2012).

Results from this test do not exclude the presence of NPM1 mutations below the detection limit of this assay (2.5%), or the presence of other NPM1 mutations not detected by this assay. Results of this test should be interpreted within the clinical context to determine whether additional testing is necessary. This test is not intended to detect minimal residual disease.

This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
CPT coding 81310
LDT or Mod FDA? Yes
Last Updated 8/7/2014 9:57:15 AM
Entry Number 1476
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