The goal of molecular genetic diagnostics is to confirm or exclude the genetic change that causes a specific condition of interest.
With next-generation sequencing (NGS) technology we have powerful tools to offer comprehensive analysis at reasonable prices. Depending on the diagnostic question to be answered, we additionally use conventional molecular genetic tests including Sanger sequencing to test for known familial mutations or MLPA (multiplex ligation-dependent probe amplification) to perform gene dosage analysis. If appropriate, we will combine these different analytical methods.
We will be happy to discuss with you the best possible approach to arrive at a diagnosis in your individual case.
NGS technology allows parallel sequencing of many genes in a single analysis.
By selecting a meaningful and appropriate set of genes that are associated with a specific disorder or group of disorders, we increase the chances to find the genetic cause of a given condition timely and at reasonable costs. Based on this approach, we have established a wide range of diagnostic panels.
Additionally, we offer “Mendeliome” (clinical exome) sequencing as a tool to analyze currently about 4,800 disease-associated genes to determine the genetic cause of unclear disorders.
We continually extend our catalogue of genes offered for testing either in a multi-gene panel or as a single-gene analysis. You can directly search our database for the gene you are interested in and learn whether it is offered for analysis.