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Test Code Billings Clinic 9346 Nucleophosmin (NPM1) Mutation Analysis

Performing Laboratory

NeoGenomics 

Useful For

NPM1 encodes for a nuclear protein involved in the regulation of tumor suppressor activity.  NPM1 mutations cause abnormal cytoplasmic localization of the protein, interfering with ribosomal assemply and other key pathways.  Among myeloid neoplasms, NPM1 mutations are found in MDS, AML, and CMML.

Methodology

Next-Gen Sequencing (NGS)

 

Specimen Requirements

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

 

Specimen must arrive within 168 hours of collection.

Specimen must be sent refrigerated.  DO NOT FREEZE.

 

Submit 1 of the following specimens:

 

 Specimen Type:  Blood 

  

Container/Tube:  Lavender top (EDTA)

Specimen Volume:  2-3 mL

Collection Instructions:

1.  Invert several times to mix blood.

2.  Send specimen in original tube.

3.  Label specimen as blood.

 

Specimen Type: Bone Marrow

Container/Tube: Lavender top (EDTA)

Specimen Volume: 2-3 mL

Collection Instructions:

1. Invert several times to mix blone marrow.

2. Send specimen in original tube.

3. Label specimen as bone marrow.

Reference Values

An interpretive report will be provided.

Day(s) Test Set Up

Monday through Friday; 3 p.m.

Test Classification and CPT Coding

81310-NPM1(nucleophosmin) (eg, acute myeloid leukemia) gene analysis; exon 12 variants

LOINC Code Information

Reporting Name LOINC Code
Specimen Type In process
Final Diagnosis: In process