Clinical AreaChild and adolescent psychiatry

Here you will find the disease-related gene panels available for the clinical area specified above.

If you cannot find the disease you are looking for, please use a known synonym in the search (also in English).

Molecular genetic diagnostics are used to clarify the hereditary causes of thousands of genetically determined diseases. Congenital malformations of the nervous system often appear sporadically - is there a genetic (co-)cause? Many inherited psychiatric disorders are demonstrably based on genetic changes and lead to disorders in the proteins that build up the central nervous system. DNA diagnostics therefore often involves a step-by-step procedure in which the most frequent mutations are first tested before the very rare genetic causes are also identified in parallel approaches using extensive and cost-intensive panel procedures. Mutations found or all variants with unclear significance (VUS) are verified by DNA sequence analysis using the Sanger technique.

The inheritance patterns of genetically caused diseases are the basis of genetic counselling for patients, persons at risk and affected families. Over the past 30 years, thousands of genes that cause hereditary diseases or contribute to the development of genetic disorders have been successively characterised. Current results of genetic research have a direct impact on the diagnostic procedure in the laboratory and in genetic counselling. For example, mutations in independent genes on different chromosomes can cause clinically indistinguishable syndromes (genetic heterogeneity in dementia or psychomotor retardation). On the other hand, different mutations in one and the same gene lead to clinically clearly separated disease entities (FMR1 gene: intellectual impairment or Fragile X-Tremor Ataxia Syndrome [FXTAS] or premature ovarian failure).

Formal genetically and etiologically, the following groups of genetic diseases can be distinguished:

• monogenic diseases (autosomal or X-chromosomal inheritance)
• mitochondrial diseases (maternal or autosomal inheritance)
• multifactorial diseases (interaction of several to many genes plus environmental factors) DNA diagnostics therefore often involves a step-by-step procedure in which the most frequent mutations are first tested before the very rare genetic causes are also identified in parallel approaches using extensive and cost-intensive panel procedures. Any mutations found or all variants with unclear significance (VUS) are verified by DNA sequence analysis Sanger technology.

Autism refers to various profound developmental disorders, also collectively known as autism spectrum disorders (ASD). Affected children usually have problems with social contacts, communication and language, show stereotypical behaviour. The type and severity of the symptoms vary greatly. Up to 2% of all children seem to be affected, whereby inherited genetic variants and new mutations are recognised as the cause or are currently only suspected. In the last decade hundreds of genes have been identified that can influence communication, social cognition and behaviour. However, so far only 10-20% of cases of ASD can be explained by alterations in these genes. The corresponding gene panels focus on the susceptibility and changes found in manifest ASA. Further detailed single-gene diagnostics and/or more extensive gene panels for the field of child psychiatry are e.g. for Rett and Kleine-Levin Syndrome. Genetic differential diagnostics for child psychiatric diseases with hereditary bases or components such as intellectual deficits are treated among other clinical areas such as child and adolescent medicine.