Sickle cell disease was one of the first diseases to which diagnosis using DNA analysis was used. Polymerase chain reaction (PCR) can be employed to amplify and identify the S gene. Variations of the PCR techniques are being employed to speed-up or simplify the traditional PCR, such as real-time PCR, single-tube allele specific PCR, and others.
The use of genetic identification of the S gene is especially important in pre-natal diagnosis, or for genetic screening of expectant parents.