Table 2.

Analysis of parental samples.

Analysis (CYP21A2 genotyping) of parental samples is necessary in order to determine

- whether heterozygous disease causing variants are in trans or in cis as to calculate the risk of the patient’s children to be carriers and provide adequate genetic counseling for pregnancies in the future

- whether disease causing variants detected in a child are de novo or inherited as to calculate the parents’ risk for further children suffering from CAH and provide adequate genetic counseling

- allocation of different (more than one or two) detected disease causing variants to the different CYP21A2-copies particularly if more than two CYP21A2-copies were detected