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.