Exome/Panel diagnostics

The technique of Next Generation Sequencing (NGS) allows the sequencing of numerous genes in a single examination. By judiciously assembling genes associated with a particular phenotype, the genetic cause of a disease can be determined quickly and cost-effectively. Corresponding multigene panels can be found on the left.

In addition, based on an exome or trio exome dataset, we can analyze virtual gene panels of any size that match the individual symptoms of your patients. This is particularly useful when a diagnostic classification is not possible. For this we need up to five leading symptoms of your patients, from which we generate a gene panel with the help of HPO-terms.

Depending on the clinical urgency, the duration of the examination ranges from 2 weeks to a maximum of 3 months. We will be happy to advise you on the optimal diagnostic procedure in your individual case.

Changes to the EBM Human Genetics

As of 01.01.2021, the restriction of the scope of analysis to 25 kb for GOP 11513 has been lifted. This means that gene panel analyses of any size or even exome analyses can now be ordered without prior approval by the health insurance company if there are corresponding clinical symptoms. A declaration of consent in accordance with the GenDG and a laboratory referral form (sample 10) are still required to initiate the diagnostic procedure. Human genetic analyses are not covered by the laboratory budget.

To Single Gene Diagnostics 


Diagnostics office

Telephone +49 221 478-86811
Fax +49 221 478 1460228
E-Mail humangenetik@uk-koeln.de