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ContactGNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features.
In order to ensure 2023 billing, testing must be activated before the end of the year, or within 30 days of proband sample collection (if sample was collected in 2023). For Exome, Genome, or Xpanded testing, if you do not expect parental samples to be received in time for testing to be activated with 2023 billing, please contact us at support@genedx.com to determine how to proceed.
GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features.