Molecular genetics testing is an additional tool to help determine prognosis and treatment groups. Testing for point mutations or other changes such as microdeletions requires molecular testing other than karyotypes. Numerous techniques are currently available for such testing, including: (the first two are the gold standards; the others are newer methods used in many labs).
- fluorescence in situ hybridization (FISH)
- reverse transcription and polymerase chain reaction (RT-PCR)
- DNA copy number arrays
- multiplex ligation-dependent probe amplification (MLPA)
- targeted gene sequencing
- exome, transcriptome, or genome-wide sequencing techniques
These provide additional information about grouping, prognosis, treatment, and disease monitoring. The specifics of each technique are beyond the scope of this case-based course.
A molecular technique on the horizon is analyzing micro-RNA (miRNA) to serve as diagnostic and prognostic markers. The advantage of such a technique is that it can be done using just blood and will pick up abnormalities sooner. The review by Rashed et al. listed in the course sources is a review article about using miRNA analysis in ALL.
