Kleefstra Syndrome

Sponsored diagnostic testing programs for Kleefstra Syndrome

Kleefstra syndrome is characterized by developmental delay, hypotonia, intellectual disability, autistic features, and distinctive facial features. Some individuals experience seizures, congenital anomalies, or behavioral challenges. Genetic testing confirms the diagnosis and supports multidisciplinary management.

1 program found for Kleefstra Syndrome

Programs

1 program
Invitae Unlock™

Invitae Epilepsy Panel

This program provides access to genetic testing for pediatric patients under 18 who present with an unprovoked seizure. The panel evaluates key epilepsy-associated genes to support diagnostic confirmation, inform prognosis, and guide clinical management. Testing is available to eligible patients when ordered by a licensed healthcare provider.

Neurology
ViewOrder
Performing labInvitae | Labcorp