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.