Test Name:

NPM1 Mutation Analysis

CPT Code:

81310

Turn Around Time:

24 – 72 hours

Clinical Application:

Detection of common 4 bp insertion mutations in exon 12 of the NPM1 gene

Diagnosis

Methodology:

PCR, fragment length analysis, LoD: 10%

For sensitive monitoring purposes deep sequencing (NGS) is required.

Specimen Requirements:

DNA-based assays

Peripheral Blood: Minimum 2 mL in EDTA (purple top) preferred or 2 mL in sodium heparin (green top)

Bone Marrow: Minimum 1 mL in EDTA (purple top) preferred or 1 mL in sodium heparin (green top)

Paraffin Sections: Minimum of 5 sections at 3 microns each

Note: FFPE bone marrow biopsies can result in inadequate DNA due to decalcification (clots sections preferable).

FFPE for Dermatology-related specimens are not accepted.

FFPE is not an acceptable sample for NGS-based assays.

Storage and Transportation:

Please store and ship specimens at ambient temperatures.

Please refer to our full specimen requirements at Hematologics/Specimen Requirements for additional information and for directions on the storage and shipping of extracted DNA or RNA.