NPM1 mutation

Description: 
The assay is used to detect the NPM1 gene mutations in AML patients. The Nucleophosmin gene encodes for a ubiquitous multifunctional protein. The gene is also involved in chromosomal translocations resulting in fusions of its N-terminus in some leukaemias. Mutations in the NPM gene (exon 12 and 11) have been observed in 35% of AMLs and predominantly in AML patients with normal karyotype. The mutation NPM1 is often associated with FLT3 ITD mutations.
Clinical details: 
AML patients harbouring mutated NPM tended to have an improved prognosis compared to patients who do not possess the mutation and patients with a dual mutation with FLT3 ITD.
Reference range: 

PB/BM.

Synonyms or keywords: 
FLT3, NPM1, Nucleophosmin, AML, MDS, Haematological Malignancies.
Department: 
Sample type and Volume required: 
PB or BM in EDTA.
Turnaround time: 
Two Weeks.
Special sample instructions: 

Samples should reach the laboratory within 24 hours of being taken.

Storage and transport: 
Room temperature. Samples in EDTA preservative.
Contacts:
Molecular Oncology Unit at Guy's
Genetics Department
Southwark Wing - 4th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 0207 188 7188 extn. 51060
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015