Monogenic diabetes is a genetic condition caused by a pathogenic variant in the DNA sequence of one from a number of genes.

Hirschsprung disease is a rare condition characterised by reduced innervation of the bowel.

Rapid testing for the common aneuploidies in prenatal and postnatal samples, and in the investigation of recurrent miscarriage, is routinely undertaken by a rapid polymerase chain reaction (PCR)-based method.