Update of the Diagnostic Panel for Neurodegenerative Diseases

We have updated the Diagnostic Panel for Neurodegenerative Diseases. The panel now comprises a total of 367 genes. The panel has also been expanded to 24 subpanels, including two new subpanels for Small vessel disease (NDD23, 5 Genes) and Basal ganglia calcification (NDD24, 27 Genes).

For further information on the Panel, please visit the section for Neurodegenerative Diseases.

Update on several Diagnostic Panels

CeGaT has updated its Diagnostic Panels for Ciliopathies, Epilepsy & Migraine, Eye Diseases, Ion Channel Diseases, Mitochondriopathies, and Neuromuscular Diseases. A new subpanel for Eye Diseases is available, designated EYE22, which is specific for Septo-optical dysplasia. Fifty-five genes have been added to the Mitochondriopathies panel, which now has a total of 266 of nuclear-encoded genes, and five subpanels have been updated on the panel for Neuromuscular Diseases.

The table below gives you an overview of all updated subpanels:

Diseases Total of genes
old / new*
Updated subpanels
Ciliopathies 71 / 72 CIL01, CIL02, CIL03
Epilepsy & Migraine 413 / 414 EPI07
Eye Diseases 258 / 274 EYE02, EYE03, EYE05, EYE07, EYE13, EYE20, new EYE22
Ion Channel Diseases 114 / 115 ION06
Mitochondriopathies 211 / 303 MIT02
Neuromuscular Diseases 229 / 267 NMD01, NMD02, NMD03, NMD06, NMD08
* Genes in multiple subpanels are only counted once

You can find an overview of all available panels on the Diagnostic Panels page.

CeGaT explains unclear syndromic disease of a six-year-old boy

Doctors of the Institute of Clinical Genetics at the Klinikum Stuttgart succeeded in revealing the molecular cause of the to-date unclear syndromic disease of a six year old boy by using CeGaT’s diagnostic sequencing service.

After performing some conventional diagnostics (karyotyping, arrayCGH diagnostics) at the Klinikum Stuttgart, a trio exome analysis (where both patient and parents are examined) from leukocytes revealed a PTPN11 germline mutation that could not completely explain the phenotype. Only with the implementation of CeGaT’s somatic tumor panel was somatic mosaicism of the PIK3CA gene could be detected from a saliva sample of the patient, which confirmed the clinical diagnosis of a megalencephaly-capillary malformation syndrome.

The results were published in the European Journal of Human Genetics. The article explains the coincidence of these two variants; moreover, a novel pathogenetic “second hit” model is presented.

CeGaT launches new Diagnostic-Panel for Skin Diseases

CeGaT has developed eleven new subpanels for comprehensive analysis of inherited skin diseases. The eleven subpanels (DRM01-DRM11) comprise 207 genes associated with hereditary forms of skin diseases. Disease pattern for e.g. ichthyoses, genetic epidermolyses, Ehlers-Danlos syndrome are included in the new panel.

For further informationen please visit our new section for Skin Diseases.

CeGaT extendes Diagnostic Panel “Neurodegenerative Diseases”

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

In total we offer the analysis of 238 genes.

For further informationen please visit our section for Neurodegenerative Diseases.