Sign in →

Test Code NPM NPM1 Mutation Detection (Peripheral Blood)

Important Note

Starting on 05/22/2017, the University of Chicago Molecular Pathology Laboratory launched a new NGS assay for the detection of mutations in Exon 11 of NPM1 gene. This test replaces the previous fragment analysis based qualitative assay and has a much improved analytical sensitivity (0.2% vs 5%).  

 

Additional Codes

n/a

Test Includes

The test procedure involves DNA extraction, DNA quality/quantity assessment, PCRs for target amplification, molecular barcoding and adapter incorporation, followed by next generation sequencing (NGS) on the Illumina MiSeq sequencer and downstream analysis for detection of 4 nucleotide insertions. 

Specimen Type

Peripheral Blood

Container

Lavender top (EDTA)

Preferred Volume

5 mL

Minimum Volume

200 uL

Offsite Collection Instructions

At least 200 µL of peripheral blood (PB) collected in EDTA tubes is required, the preferred age is less than 48 hours from the time of collection. Specimens with less than 200 µL may be tested at the discretion of the attending molecular pathologist. Specimens may be kept at room temperature for up to 6 hours following collection before storage at 4DegC. Samples may be transported to the laboratory at room temperature and must be labeled with at least two patient identifiers. Frozen and hemolyzed specimens will be rejected.

 

UCM Collection Instructions

At least 200 µL of peripheral blood (PB) or bone marrow (BM) aspirate collected in EDTA tubes is required, the preferred age is less than 48 hours from the time of collection. Specimens with less than 200 µL may be tested at the discretion of the attending molecular pathologist.

Specimens may be kept at room temperature for up to 6 hours following collection. Samples may be transported to the laboratory at room temperature and must be labeled with at least two patient identifiers. 

Frozen cells from blood from other UCM CLIA laboratories may come in other laboratory tubes (labeled with two patient identifiers) on ice.  This sample type may be used if no other sample is available (i.e. when the test is ordered as an add-on to an existing specimen).

 

Availability

Monday -Friday, 8AM - 5PM

Turnaround Time

7-10 business days

STAT Availability

Not Available

Test Usage

This Next Generation Sequencing (NGS) assay is intended to detect insertion mutations reported in Exon 11 of NPM1 gene for the assessment of low level residual disease in acute myeloid leukemia (AML) patients.

Test Methodology

Polymerase Chain Reaction (PCR) and Illumina Next Generation Sequencing (NGS)

Reference Range

Interpretation by Pathologist

Test Limitations

Copy number alterations will not be detected. Assay sensitivity is 0.2% MAF (one mutant molecule in a background of 500 normal molecules).

CPT Code

81310

Synonyms

NPM; NPM1; nucleophosmin; AML; mutation; insertion