NPM1 Insertion Mutation DNA Screen

General Information

Lab Name

NPM1 Qualitative Screen

Lab Code

NPM1

Epic Ordering

NPM1 Insertion Mutation

Description

This qualitative test detects insertion mutations in NPM1 gene and is intended for new diagnosis testing, not post-treatment minimal residual disease monitoring. Purified genomic DNA is amplified by PCR and then size-fractionated by capillary electrophoresis.

Insertion mutations in exon 12 of the NPM1 gene on chromosome 5 cause abnormal cytoplasmic localization of the NPM1 protein and have been identified in 35-50% of adult acute myeloid leukemia (AML) and in 50- 60% of AML cases having normal karyotype (AML-NK). In the absence of FLT3 internal tandem duplication (ITD) mutations, the presence of NPM1 mutations in AML-NK has been associated with better response to induction therapy and favorable overall survival.

In the post-treatment context, consider NPM1 Insertion Mutation by NGS (NPM1NG), not this assay for increased analytic sensitivity.

Please complete a Hematopathology test request form found at Request Form

Forms & Requisitions

Requisition

Synonyms

Acute Myeloid Leukemia, AML, NPM, NPM 1, NPM-1, Nucleophosmin

Components

Code	Name
NPMSD	NPM1 Specimen Description
NPMRES	NPM1 Insertion Mutation Result
NPMINT	NPM1 Interpretation
NPMMTH	NPM1 Methods and Info
NPMGRN	NPM1 by NGS Case Number

Interpretation

Method

PCR amplification of exon 12 of the NPM1 gene for detection of insertion mutation

Reference Range

See individual components

Guidelines

Molecular Testing for Hematopoietic Disorders

Ordering & Collection

Specimen Type

Blood, Bone Marrow, Tissue - Fresh, frozen or FFPE/PET (Blocks), Fluids, Slides, Sorted Cells

Collection

Preferred:
Blood: 6mL in Lavender Top (EDTA)

Bone Marrow: 1-2mL in Lavender Top (EDTA)

Tissue, Fluids or Sorted cells: Sterile container in RPMI

Formalin-fixed paraffin embedded tissue (FFPE/PET) block

Slides: 10 unstained

Accepted:
Green Tops (Heparin), while green tops are accepted for testing, there is documentation that heparin can interfere with some PCR assays.

Extracted DNA from CLIA certified laboratory.

Formalin-fixed paraffin embedded tissue (FFPE/PET)

Tissue from curls cut from FFPE/PET blocks or stained cover-slipped slides

Unacceptable:
Specimens received beyond stability limit.
Specimens with low volume or inadequate WBC
Decalcified or unacceptable fixatives

Forms & Requisitions

Requisition

Handling Instructions

Deliver samples to Hematopathology as soon as possible.
If sample is older than 48 hours, please store at 2-6°C upon receipt and send refrigerated.
Samples stored at room temperature or refrigerated older than 7 days will be rejected.
Frozen samples should be shipped on dry ice.

Quantity

requested: Blood: 6mL EDTA/BMA: 1-2mL EDTA/Tissue Blocks: Adequate size to cut 10-20 curls/Slides: 10 unstained
minimum: Blood: 1mL EDTA/ BMA: 0.5mL EDTA/Tissue Blocks: 5 curls/Slides: 5 slides

Processing

Processing: Send specimens to Hematopathology – Molecular department for processing.
The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected.

Performance

LIS Dept Code

Molecular Hematopathology (MHP)

Performing Location(s)

Other	Hematopathology, Molecular 206-606-7060 UW Hematopathology Laboratory, G7-800 Fred Hutchinson Cancer Center 825 Eastlake Avenue E. Seattle, WA 98109	Hematopathology, Molecular hours: 7:00 am - 5:30 pm M-F 8:00 am - 4:30 pm Saturday, closed on Sunday, and with reduced staffing on major holidays

Frequency

Testing daily Monday - Saturday, results within 24hrs. EVALHD reflexed or add-on orders may take up to 5 days to complete.

Available STAT?

Billing & Coding

CPT codes: 81310
LOINC: 54448-6
Interfaced Order Code: UOW1614