In approx 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 the genes associated with a certain disease simultaneously on our SOLiD 4 and SOLiD 5500xl platforms. This approach is much faster and can be achieved within a few weeks.
The aim here 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 possible an early therapeutic intervention, (IV) provide a prognostic assessment of the course of the disease and (V) provide the basis for new therapeutic methods in the long-term.
We are offering 55 Diagnostic Panels. They are:
- ALS, FTD, Dementia, Parkinson Syndrome, Dystonia, Neuroakanthocytosis and NBIA
7 Panels - 280 genes - Epilepsy & Metabolic Disorders
20 Panels - 327 genes - Hereditary Eye Diseases (Retina & Retina All)
15 Panels - 206 genes - Neuromuscular Diseases
10 Panels - 500 genes - Hereditary Hearing Diseases
3 Panels - 80 genes
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 presenting 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.