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Test Identifier Information

 
Registration CodeMONC
Method

PCR using primers that amplify mutations within the terminal exon (exon 12) of the NPM1 gene, followed by capillary electrophoresis fluorescent detection on an ABI Genetic Analyser. 

Diagnostic Use / Indications

AML mutational analysis profile:  Nucleophosmin member 1 (NPM1) mutations within exon 12 of the NPM1 gene are found in approximately 50% of cytogenetically normal AML (CN-AML) patients.  NPM1 mutations found in CN-AML patients that are FLT3-ITD negative, are associated with a favorable prognosis, whereas, patients that are negative for NPM1 mutation may fall within a prognostically adverse genotype: i.e. WT-NPM1, WT-CEBPA and no FLT3-ITD. 

The genotype of mutant NPM1 without FLT3-ITD, mutant CEBPA, and younger age were have been found significantly associated with complete remission in AML (Schlenk et al., 2008). 

 

External Price$285.81(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

Nil

Specimen Collection Protocols

Ship at ambient temperature, otherwise with coolie pack (ice pack should not directly contact the sample.)

Patient Specimen2-5 mL EDTA blood or 1 mL bone marrow aspirate.
Paediatric Specimen1 mL EDTA whole blood.
Sample Delivery to LabWithin 24 to 48 hours.
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Oncology
Contact Details Email Email
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Contact Phone Number03 3786 008 / x86008
Test AvailabilityAs required.
Turnaround Time7 days, however urgent tests can be prioritised.
Reference Interval

NPM1 Negative or Positive.

Delphic Number Test Number7675

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