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.
- Related condition
- Reference range
PB/BM.
- Synonyms
- FLT3, NPM1, Nucleophosmin, AML, MDS, Haematological Malignancies.
- Testing site
- Synnovis : Genomics : Guy's Hospital
- Laboratory
- Cancer Genetics
- Sample type and volume required
- PB or BM in EDTA.
- Special sample instructions
Samples should reach the laboratory within 24 hours of being taken.
- Storage and transport
- Room temperature. Samples in EDTA preservative.
- Turnaround time
- Two Weeks.