NPM1 quantitation
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:
Location:
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:
Cancer Genetics at Guy's Hospital
020 7188 1716
synnovis.seglh-ods@nhs.net
Genetics Department
Guy's Hospital
Great Maze Pond
London SE1 9RT
Please note, the contact details above are for clinicians and laboratory users only. The laboratory is unable to discuss tests and results directly with patients. Patients should contact their own clinician in the event of any queries or concerns.
Guy's Hospital
Great Maze Pond
London SE1 9RT
Please note, the contact details above are for clinicians and laboratory users only. The laboratory is unable to discuss tests and results directly with patients. Patients should contact their own clinician in the event of any queries or concerns.
Laboratory:
Last updated: 29/09/2021
