CeGaT introduces panel for Mitochondriopathies

Together with its clinical partners Prof. Thomas Meitinger and Dr. Holger Prokisch (TU München), Prof. Peter Freisinger (Department of Pediatrics Reutlingen Hospital) and Dr. Hans Mayr (Mito-Center Salzburg-München) and in collaboration with mitoGENE as part of mitoNET, CeGaT developed Diagnostic Panels for comprehensive molecular analysis of mitochondriopathies.

The two subpanels (MIT01 and MIT02) consist of 37 genes of the mitochondrial DNA (mtDNA) and 175 nuclear encoded genes associated with mitochondiopathies. This enables comprehensive diagnostics of these heterogeneous diseases. In case of negative test results, the analysis can be expanded to all nuclear encoded genes (> 1000) and beyond by means of whole exome sequencing.

CeGaT’s Retina Panels very successful in clinical application

CeGaT’s Retina Diagnostic-Panel turned out to be very successful in finding the genetic cause of the disease in patients with retinal dystrophies.

The results have been published in the European Journal of Human Genetics.

CeGaT introduces new Diagnostic Panels

CeGaT has established new Diagnostic Panels for:

Meanwhile we are offering 78 different subpanels.

New subpanels for NMD, CMT, and Long QT

CeGaT now offers nine new subpanels for neuromuscular diseases, Charcot-Marie-Tooth, and long QT-syndrome.

For further information please visit our Neurodegenerative Diseases section.

Epilepsy, Migraine and Metabolic Disorder Panel update

CeGaT has improved its Epilepsy, Migraine and Metabolic Disorder Panel. We have added 34 new genes, the Epilepsy, Migraine and Metabolic Disorder subpanels now include 361 genes. They have been grouped into 16 new subpanels, designed to represent different disease patterns:

  • Subpanel 1: Generalized / Myoclonic Epilepsy, Febrile Seizures, Absences (38 Genes)
  • Subpanel 2: Epileptic Encephalopathies (50 Genes)
  • Subpanel 3: Epilepsy and X-linked Mental Retardation (29 Genes)
  • Subpanel 4: CDG (Congenital Disorder of Glycosylation) Syndrome (24 Genes)
  • Subpanel 5: Ceroidlipofuscinosis (9 Genes)
  • Subpanel 6: Coenzyme Q Deficiency Syndrome (5 Genes)
  • Subpanel 7: Joubert Syndrome (17 Genes)
  • Subpanel 8: Selected Mitochondrial Disorders (36 Genes)
  • Subpanel 9: Lysosomal Storage Disorders (60 Genes)
  • Subpanel 10: Severe Microcephaly and Pontocerebellar Hypoplasia (22 Genes)
  • Subpanel 11: Leukodystrophies and Disorders of Peroxisome Biogenesis (38 Genes)
  • Subpanel 12: Disorders of the Ras/MAPK Pathway, Dysmorphic Syndromes and others (53 Genes)
  • Subpanel 13: Neuronal Migration Disorders (43 Genes)
  • Subpanel 14: Migraine (6 Genes)
  • Subpanel 15: Hyperekplexia (5 Genes)
  • Subpanel 16: Holoprosencephaly (9 Genes)

For further information please visit our Epilepsy and Migraine section.