Currently, in around 80-90% of hereditary disorders, the genetic cause remains unsolved. The main reason for this is the ubiquitous use of previously popular classic “gene-by-gene” sequencing, in which only a small number of genes can be tested per analysis and, additionally, requires a very large expenditure of both time and money.
A gene set is a curated selection of genes, all clinically relevant, that are analyzed in parallel. Gene sets are especially helpful in patients with heterogeneous diseases, where a large number of genes may be causative.
A Diagnostic Panel includes several gene sets associated with the relevant disease.
For this reason, CeGaT developed Diagnostic Panels to enable accurate diagnosis and optimal treatment for patients, without the limitations of traditional Sanger DNA sequencing and analysis. CeGaT’s Diagnostic Panels take advantage of next-generation sequencing technologies, which facilitate the simultaneous analysis of all known genes associated with a certain disease. This represents a significant advantage in the diagnosis of genetic diseases.
One of the unique features of CeGaT’s Diagnostic Panels is our “large panel approach”. We sequence the main causative genes on a requested gene set, as well as all genes present on the complete panel. If a primary clinical diagnosis cannot be confirmed from the requested gene set, we have the ability to then look at the additional genes which were sequenced, without having to go back and perform further analysis. Our experts work closely with the referring physician to determine the need for a secondary analysis. We believe this approach enhances the probability of finding the causative mutation in a patient and therefore increases the probability of confirming a diagnosis.
For the analysis of the genetic material, we use the most up-to-date technology. Sequencing of the panels is carried out on the Illumina HiSeq and MiSeq platforms.
Objectives of Panel Diagnostics
secure a clinical diagnosis
offer a targeted investigation of other family members
allow early therapeutic intervention
make a prognostic assessment of the disease
lay the basis for long term new therapeutic approaches
Please note that the gene sets allow for the targeted evaluation of specific gene sets, however we always sequence all genes that are associated with a disease simultaneously (i.e. Eye Diseases > 200 genes, Hearing Loss > 100 genes, Epilepsy & Migraine > 350 genes). Therefore, we have the ability to then look at the additional genes which were sequenced, without having to go back and perform further analyses. In this way, we have already solved many cases in which the phenotype of the patient differed significantly from the known described phenotype.
If your clinical question is not covered by our listed panel, we offer individual panels based on a exome enrichment. To request please use our order form “Exome & Custom Panel“.