PML-RARA Quantitation

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-RAR is detected in 100% of AML patients and RAR-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.
Synonyms or keywords: 
translocation 15:17 MRD
Sample type and Volume required: 
Turnaround time: 
2 weeks
Special sample instructions: 

Samples should reach the laboratory within 24 hours of being taken

Storage and transport: 
Room temperature, Samples in EDTA preservative
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