Traditionally, the high costs and enormous expenditure of time associated with DNA sequencing has allowed an examination of only a few genes at a time for a given patient. Using this approach, the causative gene mutation can be very difficult to find in clinically diagnosed patients with a suspected genetic disease.

For this reason, CeGaT developed Diagnostic Panels to enable accurate diagnosis and optimal treatment for patients, without the limitations of traditional DNA sequencing and analysis. CeGaT’s Diagnostic Panels take advantage of next-generation sequencing technologies, which facilitate the process of simultaneously analyzing 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”. Each time a panel is ordered, we sequence the primary genes on that disease-specific subpanel as well as all genes known to be associated with that type of disorder. If a primary clinical diagnosis cannot be confirmed from the subpanel, we then have the ability to look at the additional genes that were sequenced without having to go back and perform another test. Our experts work closely with the treating 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 confirming a diagnosis.

A final medical report is issued to the ordering physician that contains detailed information about genetic variants detected in the panel. All variants are validated by Sanger sequencing in the laboratory. Our diagnostic team interprets the variants according to the most current scientific findings and literature.

The purpose of our Diagnostic Panels is to pinpoint the genetic cause of a disease within an affected patient or family. This enables us to:

  1. secure a clinical diagnosis
  2. offer a targeted investigation of other family members
  3. allow early therapeutic intervention
  4. make a prognostic assessment of the disease
  5. lay the basis for long term new therapeutic approaches.

Currently, we have 188 different diagnostic subpanels for diseases listed below. As noted, we perform the initial targeted evaluation on the subpanels but we always simultaneously sequence all of the genes associated with the particular disease area. For example, we sequence all 350+ genes associated with epilepsies and migraines if an epilepsy subpanel is ordered.

If you have any questions, please do not hesitate to contact us.

  • Cardiac Diseases

    Cardiomyopathies, Cardiac Arrhythmia, Congenital Heart Defects, Aortic Aneurysm, etc
    12 Subpanels – 156 Genes

  • Connective Tissue Diseases

    Stickler Syndrome, Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, etc.
    2 Subpanels – 49 Genes

  • Epilepsy & Migraine

    Epilepsy, Epileptic Encephalopathies, Hyperekplexia, Migraine, etc.
    19 Subpanels – 397 Genes

  • Eye Diseases

    Retinitis Pigmentosa, Morbus Stargardt, Macular Dystrophies, LCA, Achromatopsia, Usher Syndrome, Bardet-Biedl, etc.
    21 Subpanels – 286 Genes

  • Ion Channel Diseases

    Episodic Ataxia, Migraine, Myotonia, Neuropathic Pain Syndromes, Bartter Syndrome, etc.
    5 Subpanels – 21 Genes

  • Kidney Diseases

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

  • Metabolic Diseases

    CDG, Lysosomal Storage Disorders, Leukodystrophies and Disorders of Peroxisome Biogenesis, Coenzyme Q Deficiency
    9 Subpanels – 102 Genes

  • Neurodegenerative Diseases

    Amyotrophic lateral sclerosis, Ataxia, Choreatic movement disorders, Dementia, Dystonia, Hereditary spastic paraplegia, NBIA, Parkinson, etc.
    24 Subpanels – 372 Genes

  • Neuromuscular Diseases

    Spinal Muscular Atrophy, Muscular Dystrophies, Myopathies, CMT etc.
    9 Subpanels – 283 Genes

  • Skeletal Disorders

    Osteogenesis imperfecta, Metaphyseal dysplasia, Multiple epiphyseal dysplasia and Pseudoachondroplasia, Craniosynostosis Syndromes, etc.
    13 Subpanels – 214 Genes

  • Skin Diseases

    Ichthyoses, Genetic Epidermolyses, Ectodermal dysplasia, Dyskeratosis congenital, etc.
    12 Subpanel – 290 Genes

  • Tumor Syndromes

    Colorectal Cancer and Polyposis Syndromes, Breast Cancer and Ovarian Cancer, Pheochromocytomas and Paragangliomas, selected familial Tumor Syndromes
    13 Subpanels – 122 Genes

Diagnostic Panel Processing

For each Subpanel we perform the following steps:

  1. Preparation: Enrichment of DNA sample with a custom CeGaT-designed kit
  2. Sequencing: Massive parallel sequencing of all genes on the subpanel using next-generation sequencing (HiSeq or MiSeq)
  3. Bioinformatic evaluation: Potential disease-causing variants and under-represented gene regions are identified
  4. Validation of variants: Variants and underrepresented regions are sequenced and validated using the gold standard Sange Sequencingas an independent confirmation method
  5. Final bioinformatics and clinical evaluation of the complete Single Nucleotide Variant lists of all genes
  6. Medical report issued to ordering physician

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.

Prices and Payment

For price information please send an email to the designated contact person named for each Diagnostic Panel, or contact us through info@cegat.de or by using our Contact Form. Payment is possible by cash, check or credit card.