NPM1 mutation
Investigation : NPM1 mutation
Specimen type : Bone marrow or blood
Spec container : EDTA 
Volume required : 2ml of bone marrow or 10ml of blood
Turnaround : 21 days
Samples should arrive within the laboratory within 72 hours of collection.

If sample cannot be sent immediately after bleeding, keep in 4 degree fridge and send as soon as possible.

Mutations in the nucleophosmin 1 (NPM1) gene are the most frequent genetic alterations in de novo cytogenetic normal acute myeloid leukaemia (CN-AML) (around 50-60%). In AML patients with intermediate-risk cytogenetics, NPM1 mutation status can assist in predicting a patientís risk of relapse and overall survival. NPM1 mutation has a favorable effect on the outcome for AML. Patients with NPM1 mutation show increased response to chemotherapy and improved survival with frontline induction and consolidation chemotherapy. AML with NPM1 mutations has been added as a provisional entity in the 2008 World Health Organization classification of AML.

Contact HODS Molecular Biology Lab for further enquiries on Ext. 4326.


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