Specific symptoms, such as epilepsy or a neurological disorder, may cause a hereditary disease to be suspected. The same disorder being present in other members of the family may reinforce this view.

Different presentations are possible; in the case of a specific suspected condition, and if a targeted test for a single gene exists, the this can be investigated simply and quickly (e.g. in the cases of cystic fibrosis, spinal muscular atrophy and alpha- or beta-thalassaemia). However, if multiple genes are involved, as in the case of some forms of hereditary epilepsy, a group of candidate genes is analysed (gene panel). If no specific hypothesis can be formed, but it remains highly likely that the problem is a genetic one, systematic mass analysis of a large number of genes may lead to a result (clinical exome sequencing).

Genesupport - Children hereditary diseases