Pitt-Hopkins Syndrome, Pitt-Hopkins-Like Syndrome

Sponsored diagnostic testing programs for Pitt-Hopkins Syndrome, Pitt-Hopkins-Like Syndrome

Pitt-Hopkins syndrome features intellectual disability, absent or limited speech, ataxia, breathing abnormalities, and characteristic facial features, while related syndromes present with overlapping features due to other genes. Seizures are common. Genetic testing clarifies the specific diagnosis and guides care and family counseling.

1 program found for Pitt-Hopkins Syndrome, Pitt-Hopkins-Like 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
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Performing labInvitae | Labcorp