Clinical AreaHuman genetics

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).

Human genetic diagnostics are used to clarify the hereditary causes of thousands of genetically determined diseases. The aim here is to identify deviations from the reference genome ("wild type") and then, if necessary, to distinguish between neutral variants and pathogenic mutations that are important for the physiological development and undisturbed functioning of the organism. 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, hundreds 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 the eye disease retinitis pigmentosa with >80 different mutated genes). On the other hand, different mutations in one and the same gene lead to clinically clearly separated disease entities (CFTR gene: to the full picture of cystic fibrosis and/or only to CBAVD [Congenital Bilateral Aplasia of the Vas deferens]).

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)

Congenital malformations often appear sporadically - is there a genetic (co-)cause? More than 7000 hereditary disorders are proven to be based on genetic changes and lead to disorders in the proteins needed in the organism. 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 Sanger technology. Practically all genetically determined disease entities as well as the corresponding genes and their chromosomal localisation etc. are listed in the OMIM database (https://www.omim.org/) at least monthly with extensive additional information and are accessible to everyone.