Metachromatic Leukodystrophy

Sponsored diagnostic testing programs for Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a lysosomal disorder causing progressive demyelination leading to motor decline, developmental regression, neuropathy, and vision or hearing loss. Onset ranges from infancy to adulthood. Genetic testing confirms the diagnosis and informs eligibility for emerging therapies.

1 program found for Metachromatic Leukodystrophy

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