Category: Neurology

Leigh syndrome and mitochondrial encephalopathy – Panel

Primary Dystonia

Early Infantile Epileptic Encephalopathy – Panel

Leigh Syndrome – Panel

Amyloidosis, Transthyretin-related (Exones 2, 3, 4 of the Gene TTR)

Spinocerebellar Ataxia – SCA Repeat expansion panel

CARASIL

SMA Carrier Test – MLPA – 2 Level Test

Kabuki Syndrome – Panel

Aicardi-Goutières Syndrome – Panel