CeGaT extends Diagnostic Panel “Neurodegenerative Diseases”

CeGaT extends on their Diagnostic Panels the spectrum of Neurodegenerative Diseases from 16 to 22 subpanels. In addition to the existing panels for Parkinson´s disease, dementia, ALS, dystonia and other hereditary neurodegenerative syndromes which have been updated, CeGaT now offers new panels for ataxia, hereditary spastic paraplegia, spinal muscular atrophy, choreatic movement disorders and leukodystrophy/ leukoencephalopathy.

In total we offer the analysis of 242 genes.

For further informationen please visit our section for Neurodegenerative Diseases.

CeGaT launches 21 subpanels for Kidney Diseases

CeGaT has developed new subpanels for comprehensive analysis of inherited kidney diseases. The 21 subpanels (KID01-KID21) comprise 145 genes associated with both isolated and syndromic nephropathies. This enables comprehensive diagnosis of these heterogeneous diseases.

For further informationen please visit our section for Kidney Diseases.

Update on Diagnostic Panels

CeGaT has updated its Diagnostic Panels by adding new genes to the existing panels and by introducing 20 new subpanels.

For example, newly added subpanels for Eye Diseases now include the following phenotypes: optic atrophy, ocular and oculocutaneous albinism, and microphtalmias. A macrocephaly subpanel has been designed for the Epilepsies and Brain Development Disorders. A new subpanel for Ehlers-Danlos Syndrome and differential diagnosis was introduced in the Connective Tissue Diseases panel.

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.