Acute Myeloid Leukemia - NPM1 gene Mutations Test

Nucleophosmin (NPM1), encoded by the NPM1 gene localized at chromosome 5q35, is a multifunctional nucleo-cytoplasmic shuttling protein that is predominantly localized in the nucleoli. Acute myeloid leukemia (AML) is a clonal disease of hematopoietic progenitor cells, leading to increased numbers of blasts in the blood and/or bone marrow with concurrent suppression of normal hematopoiesis. AML is rapidly being recognized as a heterogeneous disease, with up to 55% of adult cases having nonrandom chromosomal aberrations, which can generally be detected by conventional karyotyping. Cytogenetically normal-AML is less frequent in children than in adults, and accounts for ±20 to 25% of childhood AML cases.

No special preparation is necessary. It is advisable that you should either wear a sleeve-less or a half-sleeve shirt or wearing a shirt with full- sleeves that can easily be rolled-up till elbow so that the doctor can take a blood sample easily. If the specimen for test are taken at home, maintain specimen at room temperature. And if specimen is to be stored prior to shipment, store at 2°C to 8°C.

In those patients with an NPM1 mutation and a normal karyotype, a more favorable prognosis is suspected. Other genetic markers can also affect prognosis. (NOTE: Mutations in the FLT3 gene have also been shown to affect prognosis in patients with AML and normal karyotype. Consideration of testing for mutations in this gene may provide a more complete prognostic picture.)

DNA Polymerase Chain Reaction (PCR) with Fragment Analysis by Capillary Gel Electrophoresis is performed to test NPM1.
Specimen to be collected:-
5-10mLs peripheral blood OR 3-5mLs bone marrow in EDTA tube.
5 mL of Peripheral Blood in Heparin, EDTA, or ACD
3 mL of bone marrow in Heparin, EDTA, or ACD
Cell Pellets in cell culture media or buffered solutions without fixatives.
1 ug of previously isolated DNA
Different procedures are followed for the above sample collection.
The reports are received in between 8-10 days.