Most genetic diseases are heterogeneous, meaning numerous genes can be causative of the respective disease. Thus, multi-gene panels are particularly relevant in genetic diagnostics.
Our multi-gene panels for various disease groups are carefully designed and constantly updated by our medical experts, genetic scientists and specialists in human genetics.
Our methods involve parallel enrichment of many genes to cover overlapping clinical issues, thereby enabling efficient assessment of potential differential diagnoses simultaneously. This approach significantly increases the probability of detecting a causative genetic mutation, while avoiding a cumbersome multi-step approach that entails considerably higher costs.
Depending on the patient's clinical question, we optimise and customise each gene panel individually. The clinically most relevant genes are combined in a core panel (main genes). Genes that may be additionally associated with the disorder are combined in an extended panel for parallel enrichment.
Our highly sensitive methods enable the identification of single nucleotide variants (SNVs) and the parallel detection of pathogenic copy number variants (CNVs), ensuring a significantly higher detection rate of causative mutations.
Some disorders are exclusively related to mutations in just one gene. If the clinical course is in line with the respective phenotype, these cases can be investigated using specific single-gene testing. In addition, targeted testing for individual pathogenic variants known to exist in a given family can help to make a risk assessment for other family members. We are happy to share our experience and provide guidance in this field of testing.