Detection of the PML-RARA t(15;17) translocation is diagnostic for acute promyelocytic leukaemia (APL), although the diagnosis can also be based on morphology. Investigations suggest that 99% of APL patients harbour a translocation between chromosomes 15 and 17, which fuses the retinoic acid receptor alpha (RARA) gene on chromosome 17 with the PML gene on chromosome 15. Detection of the PML-RARA t(15;17) translocation is therefore used within clinical research as an identifier for APL. Depending on the location of breakpoints within the PML site, intron 6, exon 6 and intron 3, the respective PML-RARa transcript subtypes referred to as long (L or bcr1), variant (V or bcr2) and short (S or bcr3), may be formed. They represent 50-55%, 5-10% and 30-40% of the cases respectively.
TRUPCR® PML-RARA is an in vitro nucleic acid amplification assay for the qualitative detection of PML-RAR-alpha fusion transcripts in human clinical samples. In this multi-tube assay, extracted RNA is subjected to separate Real-time reverse transcription-polymerase chain reaction (RT-PCR) procedures to detect long, variant and short isoforms simultaneously. An additional amplification for the ABL gene is performed as a control for sample RNA quality.