Human genetic diagnostics

based on state-of-the-art, sensitive methods

The objective of our approach and molecular genetic diagnostics is to employ reliable, cost and time efficient methods to identify the underlying genetic cause of a given disorder.

We offer tailor-made, customisable tests (single-gene testing, multi-gene panels, whole exome sequencing, WES etc.) to address the clinical question under investigation.

Next generation sequencing (NGS) is a particularly useful method that enables parallel analysis of a large number of disease-relevant genes. Multi-gene panels have high relevance as most genetic disorders are heterogeneous, i.e. they are known to be caused not by a single gene but by a large variety of genes.

Click here for our testing portfolio. Our request form can be accessed here.

What makes our multi-gene panel unique and so special?

Our multi-gene panels for various disease groups are carefully designed and continually updated by our medical experts and specialists in human genetics and the respective clinical field. This method involves parallel enrichment of many genes for overlapping clinical questions, thereby enabling efficient assessment of potential differential diagnoses at the same time. This approach significantly increases the probability of detecting a causative mutation, while avoiding a cumbersome multi-step approach that entails considerably higher costs.

We optimise and customise the gene panel to be tested on the basis of the clinical question under investigation for a patient. Clinically most relevant genes are combined in a core panel (main genes). Genes that may be additionally associated with the disorder are included in an extended panel for parallel enrichment. We offer additional evaluation of pathogenic (class 5) and probable pathogenic (class 4) variants for these extended gene panels.

Increased mutation detection rate thanks to reliable detection of copy number variants (CNVs)

Our highly sensitive methods enable identification of single nucleotide variants (SNVs) and parallel detection of pathogenic copy number variants (CNVs). This helps ensure a significantly higher detection rate of causative mutations, which we provide to you without any need for an additional request or separate testing.

In which cases is targeted testing useful?

Some disorders are exclusively related to mutations in just one gene, If the clinical course is in line with the respective phenotype these cases might be investigated by 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.

Our policy is to be a full-service provider in all questions of human genetic diagnostics. In the event that a given test is not offered by our facilities in Mainz or at Limbach Genetics, we make sure that your samples are processed by a certified partner laboratory of comparable superior quality. The testing portfolio available at our Mainz facilities can be accessed here. We are still building and developing our services, and endeavour to continually extend our established test range. The provision of expert counselling services for all indications is extremely important to us. You are very welcome to contact us if you have any questions.

We offer:

  • Clinical genetics service for your patients, provided by our specialist physicians in clinical genetics
  • Well-structured, concise reports
  • Differentiated and sophisticated interpretation of results by highly experienced staff
  • Tailor-made and customisable tests (single-gene testing, multi-gene panels or whole exome sequencing, WES), depending on the clinical question discussed
  • A full test range with the latest gene panels and innovative methods combined with profound experience in genetics
  • Rapid, advanced and cost-efficient analytics based on next generation sequencing (NGS)
  • Premium quality and a full service range in genetic testing

Please contact us if you have any questions about our services in diagnostics. We are happy to provide assistance.