Nucleophosmin – qPCR for monitoring

Diagnostic Use

Quantitation of nucleophosmin (NPM1) mutation transcripts to monitor measurable residual disease (MRD) in acute myeloid leukaemia (AML) patients who had a NPM1 variant (Type A, B or D) detected at diagnosis. This assay can also be used at diagnosis to determine if there is a NPM1 mutation present - please note that it will only detect NPM1 Type A, B or D variants.

Department

Genetics, Genetics - Molecular Oncology

Delphic Registration Code

MONC

Laboratory Handling

Phlebotomy

3x EDTA (Lavender) dedicated to Genetics

Registration

Send to MONC

Synonyms

NPM1

Turnaround Time

5 days

Specimen Type

• Whole Blood
• Bone Marrow

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Additional Specimen Information

12 ml peripheral blood (EDTA)
2-4 ml bone marrow (EDTA, not RPMI)
Transport to the laboratory at ambient temperature within 72 hours of collection.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Transport to the laboratory at ambient temperature within 72 hours of collection.

Interpretation

NPM1 variant (Type A, B or D) and control gene ABL1 transcripts  are amplified and results are expressed as a ratio percent (NPM1 variant/ABL1 x 100).  The lower Limit of Quantitation is 0.030%.  The significance of NPM1 transcript level should always be considered in the context of treatment and sequential NPM1 monitoring.

Please Note: This assay will only detect Type A, B or D NPM1 mutant transcripts. If a diagnostic sample is negative for NPM1 transcripts using this assay the report will state that other rare NPM1 transcripts are not excluded.  These can be tested for on request using NPM1 fragment analysis or the myeloid next generation sequencing panel.

Type A: NM_002520.7(NPM1):c.860_863dup p.(Trp288Cysfs*12)

Type B:  NM_002520.7(NPM1):c.863_864insCATG p.(Trp288Cysfs*12)

Type D:  NM_002520.7(NPM1):c.863_864insCCTG p.(Trp288Cysfs*12)

Test Method

Quantitation of NPM1 variant transcripts using the Xpert NPM1 Mutation assay (GeneXpert, Cepheid).

Non-Funded Test Cost

$394.32 (Exclusive of GST)

Billing Code

5057

Additional Costing Information

An additional charge of approximately $200 may be applied to samples received on weekends and public holidays for processing by on-call staff.
In the case of this test the cost will only be incurred if the sample will be older than 72 hours post collection by the next business day.

Contact Information

Enquiry Form