Invitae Epilepsy Test Expansion
Invitae has launched an expansion of its epilepsy testing menu. The menu includes an expanded panel that has more than 100 carefully curated genes. The menu also includes a smaller panel specifically for early infantile epileptic encephalopathy and one specifically for syndromic forms of epilepsy. The panel includes SCN1A, SLC2A1, ALDH7A1, SLC6A8, PNPO, and several others that fall in the differential diagnosis for Rett and Angelman syndromes. These genes are involved in the discovery of pathogenic variants that would guide clinical management and potentially lead to life-saving treatments. Additionally, Invitae's epilepsy panel can be combined for no extra charge with other panels or single-gene tests for relevant developmental disorders where clinically appropriate, the company said in a statement.