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Test Code NPM1Q Nucleophosmin (NPM1) Mutation Analysis, Varies


Shipping Instructions


1. Refrigerated specimens must arrive within 5 days of collection, and ambient specimens must arrive within 3 days of collection.

2. Collect and package specimen as close to shipping time as possible.



Necessary Information


The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Specimen source (blood or bone marrow)



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD-B)

Specimen Volume: 10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

 

Specimen Type: Bone marrow

Container/Tube: Lavender top (EDTA) or yellow top (ACD-B)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.

3. Label specimen as bone marrow.


Forms

1. Hematopathology Patient Information (T676)

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Useful For

As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease

Testing Algorithm

The assay is composed of 2 parts:

-RNA-based, sensitive quantitative real-time, reverse transcription polymerase chain reaction (RT-PCR) that detects and quantifies the most common altered NPM1 messenger RNA transcripts (A, B, D forms) in acute myeloid leukemia (AML)

-DNA-based qualitative NPM1 exon 12 variant screening by fragment analysis that detects essentially all altered forms reported in AML, including the rare non-A, B, D forms (with lower sensitivity at the DNA level)

Reporting Name

NPM1 Mutation Analysis, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 8 mL; Bone marrow: 2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Refrigerated (preferred) 5 days
  Ambient  72 hours

Reject Due To

Gross hemolysis Reject
Bone marrow biopsies
Paraffin-embedded bone marrow clots
Slides
Paraffin shavings
Moderately to severely clotted		 Reject

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Saturday

Report Available

10 to 14 days

Specimen Retention Time

Blood/bone marrow: 2 weeks; Extracted DNA and RNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NPM1Q NPM1 Mutation Analysis, V 54448-6

 

Result ID Test Result Name Result LOINC Value
MP053 Specimen Type 31208-2
605098 Interpretation 59466-3
605262 Signing Pathologist 19139-5