There is a rapidly growing literature on transcription abnormalities, e.g. differential expression of alleles and the role of some single nucleotide polymorphisms in altering splicing patterns. An average 10% of splicing mutations is reported in the Human Gene Mutation Database but this figure could climb to 50% for some genes such as NF1 or ATM. This paper therefore aims at clarifying some important aspects of transcriptional abnormalities in genetic testing. The main types of alterations are presented, i.e. exonic, intronic and promoter modifications that could modify or create consensus motif and/or secondary structures. DNA, RNA based-diagnostic strategies and in silico tools are then presented and their performances and limitations outlined to build up a picture of the current state of the art.