Diagnostic Panels

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

Available Panels

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.

Custom Panel

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“.

Blood & Immune Disorders
14 Gene sets – 326 Genes

Cardiac Diseases
Cardiomyopathies, Cardiac Arrhythmia, Congenital Heart Defects, Aortic Aneurysm, etc
12 Gene sets – 156 Genes

4 Gene sets – 79 Genes

Connective Tissue Diseases
Stickler Syndrome, Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, etc.
2 Gene sets – 49 Genes

Epilepsy, Metabolic and Brain Development Disorders
Epilepsy, Epileptic Encephalopathies, Hyperekplexia, Migraine, etc.
28 Gene sets – 639 Genes

Eye Diseases
Retinitis Pigmentosa, Morbus Stargardt, Macular Dystrophies, LCA, Achromatopsia, Usher Syndrome, Bardet-Biedl, etc.
21 Gene sets – 287 Genes

Hearing Loss
3 Gene sets – 126 Genes

Ion Channel Diseases
Episodic Ataxia, Migraine, Myotonia, Neuropathic Pain Syndromes, Bartter Syndrome, etc.
5 Gene sets – 21 Genes

Kidney Diseases
Cystic Kidney Diseases, Dysplasia of the Kidneys, CAKUT, Glomerulopathies, Tubulopathies, Haemolytic Uraemic Syndrome, etc.
20 Gene sets – 182 Genes

Liver Diseases
8 Gene sets – 117 Genes

2 Gene sets – 302 Genes

Neurodegenerative Diseases
Amyotrophic lateral sclerosis, Ataxia, Choreatic movement disorders, Dementia, Dystonia, Hereditary spastic paraplegia, NBIA, Parkinson, etc.
29 Gene sets – 553 Genes

Neuromuscular Diseases
Spinal Muscular Atrophy, Muscular Dystrophies, Myopathies, CMT etc.
9 Gene sets – 296 Genes

1 Gene sets – 23 Genes

Skeletal Disorders
Osteogenesis imperfecta, Metaphyseal dysplasia, Multiple epiphyseal dysplasia and Pseudoachondroplasia, Craniosynostosis Syndromes, etc.
13 Gene sets – 214 Genes

Skin Diseases
Ichthyoses, Genetic Epidermolyses, Ectodermal dysplasia, Dyskeratosis congenital, etc.
12 Gene sets – 290 Genes

Tumor Syndromes
Colorectal Cancer and Polyposis Syndromes, Breast Cancer and Ovarian Cancer, Pheochromocytomas and Paragangliomas, selected familial Tumor Syndromes
13 Gene sets – 110 Genes

Additional information regarding the use of Diagnostic Panels in medical diagnostics can be found in a paper by Saskia Biskup, MD PhD, on “Next Generation Sequencing in Genetic Diagnostics”, published in Journal of Laboratory Medicine.