PML-RARA Quantitation
- Description
- Acute promyelocytic leukaemia (APML/AML M3) is characterised by chromosomal rearrangements of 17q21 leading to the formation of fusion proteins involving retinoic acid receptor alpha (RARA). Also a majority of cases are characterised by the presence of the t(15;17)(q22;q12-21) which involves the promyelocytic leukaemia (PML) gene. Two chimeric genes PML-RARï¡ is detected in 100% of AML patients and RARï¡-PML detected in 40% of AML patients. The detection of the PML-RARA fusion gene by quantitative polymerase chain reaction (RT-PCR) is routinely used for diagnosis and monitoring of minimal residual disease (MRD). The detection of MRD in patients with APML identifies molecular relapse and enables the prediction of haematological relapse.
- Related condition
- Synonyms
- translocation 15:17 MRD
- Testing site
- Synnovis : Genomics : Guy's Hospital
- Laboratory
- Cancer Genetics
- Sample type and volume required
- PB, BM
- 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
- 2 weeks
- Contacts
Cancer Genetics at Guy’s Hospital
Phone: 020 7188 1716
Email: synnovis.seglh-ods@nhs.net
Genetics Department
Guy’s Hospital
Great Maze Pond
London SE1 9RT