Diagnostic Panels

In approximately 80-90% of clinically diagnosed complex genetic diseases the causative gene variation is not found. This is due to the fact that the classical sequencing of gene by gene is excessively expensive and very time consuming.

CeGaT has developed Diagnostic Panels in collaboration with its clinical partners. These Diagnostic Panels enable us to sequence all genes associated with a certain disease simultaneously on our SOLiD and PGM platforms. This approach is much faster and considerably less expensive than the classical gene by gene sequencing. In addition the probability of finding the causative gene variation is significantly higher.

Rationale for Diagnostic-Panels:

The aim is to clarify the genetic cause in affected families and thereby to (I) secure a clinical diagnosis, (II) be able to offer a targeted examination of other family members, (III) make an early therapeutic intervention possible, (IV) provide a prognostic assessment of the course of the disease and (V) provide the basis for new therapeutic methods in the long-term.

Available Diagnostic-Panels:

We are offering 61 Diagnostic Panels. They are:

The different steps of perfoming a Diagnostic-Panel:

For each Diagnostic-Panel we are performing the following steps:

(1) Enrichment of DNA sample with special CeGaT-Panel and preparation of NGS sequencing

(2) Massive parallel sequencing of all genes in the Panel using next generation sequencing (SOLID 5500xl or Ion Torrent PGM)

(3) Bioinformatical evaluation: Potential disease causing variants and regions that are underrepresented are identified

(4) Post sequencing of variants and underrepresented regions using the gold standard Sanger sequencing as an independent confirmation method

(5) Final bioinformatical and clinical evaluation of the complete SNV lists of all genes

(6) Issuing of medical report.

Some technical information can be found under "Short Description of CeGaT Diagnostic Panel". Further and more detailed information regarding the use of panels in medical diagnostics can be found in a paper by Saskia Biskup, MD PhD, on "Next Generation Sequencing in Genetic Diagnostics", recently published in Journal of Laboratory Medicine.

We will of course continue our research & development activities in this field and are optimistic to present even more panels soon. If you are interested in any information on this subject, please let us know by just sending a short mail at diagnostic-panels@cegat.de. We would like to keep you informed regularly.

Of course all of the genes can still be ordered individually for gene testing - please use our order form which can be found in the section Molecular Diagnostics.