Clinical AreaAngiology

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 angiological diseases. The aim here is to detect deviations from the reference genome ("wild type") and then, if necessary, to differentiate between neutral variants and pathogenic mutations that are important for the physiological development and undisturbed functioning of the vascular system. The inheritance patterns of angiological diseases are the basis of genetic counselling for patients, persons at risk and affected families. Over the last 30 years, a number of genes that cause or contribute to the development of angiological diseases have been characterised. Current results of angiological-genetic research have a direct effect on the diagnostic procedure in the laboratory and for genetic counselling.

Formal genetically and etiologically the following groups of angiogenetic 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 of the vascular system often appear sporadically - is there a genetic (co-)cause? Most angiological diseases are proven to be based on multifactorial causes. For the few monogenic diseases, DNA diagnostics therefore often comprises 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 comprehensive and cost-intensive panel procedures. Mutations found or all variants with unclear significance (VUS) are verified by DNA sequence analysis using the Sanger technique. In the following, examples of individual monogenic diseases are given.

Congenital hereditary lymphedema can be caused by mutations in several independent genes on different chromosomes. Sometimes lymphedema is also involved in complex syndromes. The diagnostic gene panel for this developmental disorder comprises seven so-called basic genes and a total of twice the number of genes that can be sequenced in parallel. Initially, only those genes that appear to be best associated with the clinical picture are analysed. Hereditary angioedema is often caused by mutations in the SERPING1 gene or in other genes, virtually all comprised in our panel.

Generalized arteriosclerosis of childhood is based on mutations in the ENPP1 or ABCC6 genes. Homozygous NT5E gene mutations cause calcification of arteries and joints usually in adulthood, but sometimes as early as the second decade of life. Very rarely, the frequently observed arteriosclerosis is due to monogenic causes such as mutations in the ABCA1, APOB, LDLR or PCSK9 genes. As a rule, a complex multifactorial process usually underlies the commonly known disease, whereby several genetic variants and, above all, numerous environmental or lifestyle factors are partly responsible. Similarly complex is the basis on the side of venous diseases, e.g. varicosis, whose genetic contributions can only be determined by genome-wide association studies (GWAS) in large cohorts of tens of thousands of patients and controls. For the abovementioned monogenic angiological diseases, the heredity patterns are known, and the genetic defects are directly detectable. If the clinical diagnosis remains less specific, several gene panels are available for differential dignosis depending on the disease group.