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Test Code 76401435 Nucleophosmin (NPM1) Gene Mutation Detection in Acute Myeloid Leukemia (AML)

Performing Laboratory

Barnes-Jewish Hospital Laboratory


Polymerase chain reaction (PCR ) followed by capillary electrophoresis separation is used to detect  NPM1 exon 12 insertion mutations.  This is a Laboratory Developed test (LDT) using Analyte Specific Reagents (ASR).

Literature Reference:

Scholl S, Mügge L-O, Landt O, et al. Rapid screening and sensitive detection of NPM1 (nucleophosmin) exon 12 mutations in acute myeloid leukemia. Leuk Res 2007;31:1205-11.

Specimen Requirements

Call Barnes-Jewish Hospital Molecular Diagnostics Laboratory at 314-454-8685 for collection instructions.


Forms: Molecular Diagnostic Laboratory Request for DNA Studies-Oncology in Special Instructions.


Submit only 1 of the following specimens:


Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: Full tube

Specimen Minimum Volume: 1-2 mL

Collection Instructions: Invert several times to mix blood. Clotted blood is not acceptable.


Specimen Type: Bone marrow, anticoagulated

Container/Tube: Lavender top (EDTA)

Specimen Volume: 1-2 mL

Collection Instructions: Invert several times to mix bone marrow. Clotted bone marrow is not acceptable.

Day(s) Test Set Up


Turnaround Time:
STAT: not available
Routine: 3 to 5 business days

Reference Values

An interpretive report will be provided.

Literature Reference:

Wertheim G, Bagg A. Nucleophosmin (NPM1) mutations in acute myeloid leukemia: an ongoing (cytoplasmic) tale of dueling mutations and duality of molecular genetics testing methodologies. J Mol Diag 2008;10:198-202.

Test Classification and CPT Coding


Additional Information

For BJH Laboratory Use Only

Alternate Tube:

1 yellow-top ACD (solution A or B) tube

Analyte Stability:

Blood and bone marrow are stable 0 to 4 hours at ambient temperature, up to 96 hours refrigerated.

Laboratory Processing Instructions:
Test performed in BJH Molecular Diagnostics.

Specimen Transport Temperature

Ambient/Refrigerate NO/Frozen NO