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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. 

The Scan

Support for Moderna Booster

An FDA advisory committee supports authorizing a booster for Moderna's SARS-CoV-2 vaccine, CNN reports.

Testing at UK Lab Suspended

SARS-CoV-2 testing at a UK lab has been suspended following a number of false negative results.

J&J CSO to Step Down

The Wall Street Journal reports that Paul Stoffels will be stepping down as chief scientific officer at Johnson & Johnson by the end of the year.

Science Papers Present Proteo-Genomic Map of Human Health, Brain Tumor Target, Tool to Infer CNVs

In Science this week: gene-protein-disease map, epigenomic and transcriptomic approach highlights potential therapeutic target for gliomas, and more