Diagnostic Panels

In approximately 80-90% of clinically diagnosed complex genetic diseases the causative gene variation is not found by single gene testing. 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 HiSeq 2500, MiSeq 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, to (II) be able to offer a targeted examination of other family members, to (III) make an early therapeutic intervention possible, to (IV) provide a prognostic assessment of the course of the disease and to (V) provide the basis for new therapeutic methods in the long-term.

Available Diagnostic Panels:

We are offering 159 Diagnostic Panels:

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 (HiSeq, MiSeq 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.

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.

Prices and Payment

For price information please send an email to the contact person named for the different panels (names and email addresses are given on the particular website), contact us through info {at} cegat.de or by using our Contact Form. Payment is possible by cash remittance, check or credit card.