NPM (Exon 12) Mutation Analysis : 1001798

NPM1MF or 1001798

Nucleophosmin, Acute Myeloid Leukemia (AML)

EDTA whole blood. Also acceptable: EDTA Bone marrow, Formalin fixed paraffin embedded tiissue, or cell pellet.

Submit 3-5 mL whole blood in EDTA lavender top (Min: 1 mL) or 3 mL EDTA bone marrow (Min: 1 mL).
Alternative specimens:
Submit Formalin fixed paraffin embedded tissue block.
Cell pellet: submit the remnant cell pellet from a Cytogenetics procedure as soon as possible.

Refrigerated.

Whole blood or Bone: Ambient: 7 days; Refrigerated: 7 days; Frozen: Unacceptable

Formalin fixed paraffin embedded tissue: Ambient: Indefinite; Refrigerated: Indefinite; Frozen: Unacceptable

Cell pellet: Ambient: Unacceptable; Refrigerated: 30 days; Frozen: 30 days

Tuesday & Friday

3-6 (From receipt at performing laboratory)

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

This test is performed pursuant to a license agreement with Roche Molecular Systems, Inc.

Negative

Acute Myeloid Leukemia (AML) is a clinically heterogeneous disease. Recurrent cytogenetic abnormalities help define subgroups with different prognosis and identify patients whom might benefit from targeted therapies. However, almost half adults AML cases display a normal karyotype by conventional cytogenetics, and the clinical and molecular features of this large subgroup of patients are poorly understood. The NPM exon 12 mutation can serve as predictor in AML cases with a normal karyotype, good response to induction chemotherapy and as a marker for monitoring of minimal residual disease. NPM exon 12 mutations are AML-specific since they are not detected in normal cells or other neoplasms.