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Houston, Texas

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Medical Genetics Test Details

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NPM1 Exon 11 Mutation Analysis
Test Information: Indication for Study:

Identification of NPM1 exon 11 insertion mutation
Test Details
Test Code: 9005
Test Includes: Sequence Analysis of Exon 11 of the NPM1 gene

Special Notes: NPM1 mutations, which occur in exon 11, encoding for the C terminus of the NPM1 protein, have recently been described in adult acute myeloid leukemia (AML). They consist of net insertion of a few (mostly 4) nucleotides, affecting at least one of the tryptophan residues at amino acid position 288 or 290. NPM1 mutations are present in approximately 50-60% of adult cytogenetically normal AML (CN-AML) samples. They confer a favorable clinical outcome in this subgroup of patients. However, this favorable prognosis is lost in patients whose AML cells harbor both a mutation in NPM1 and internal tandem duplication in the FLT3 gene (FLT3/ITD).

Technical Limitations:

This test is designed to detect the insertional mutations in exon 11 of the NPM1 gene only. The limit of the test is approximately 20 mutated cells in 100 total cells (20%).

Results of this test must always be interpreted in the context of relevant clinical and pathological data, and should not be used alone for a diagnosis of malignancy. This test is not intended to detect minimal residual disease.

Useful Publications:
- Favorable prognostic impact of NPM1 gene mutations in childhood acute myeloid leukemia, with emphasis on cytogenetically normal AML.
- Rapid method for detection of mutations in the nucleophosmin gene in acute myeloid leukemia.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions of exon 11 of the NPM1 gene.
Gene Name: NPM1
Protein Name: Nucleophosmin/Nucleoplasmin Family, member 1
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Bone Marrow
Requirements: 2-5 mL Bone Marrow (Min: 1 mL) in a EDTA (purple-top) tube(s).

Transport Temperature: sent on wet ice (2-8C)

Unacceptable Conditions: Frozen specimens.

Stability: Ambient: 24 hours; Refrigerated: 5 days; Frozen: Unacceptable
Shipping Conditions: Ship at 2-8C (Ambient) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 24 hrs of collection. Do not heat or freeze.

Specimen Type: Leukemic Blood
Requirements: 5-10 mL Leukemic Blood (Min: 1 mL) in a EDTA (purple-top) tube(s).

Transport Temperature: sent on wet ice (2-8C)

Unacceptable Conditions: Frozen specimens.

Stability: Ambient: 24 hours; Refrigerated: 5 days; Frozen: Unacceptable
Shipping Conditions: Ship at 2-8C (Ambient) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 24 hrs of collection. Do not heat or freeze.

Turn Around Time: 7 days
Billing Information
List Price: $550.00 *Institutional discounts may apply, please call.
CPT Codes: 81310x1


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