Category: Neurology

Dopa-Responsive Dystonia

Neuropathy – Panel

Mucopolysaccharidosis Type I, Hurler-Scheie Syndrome

Epilepsy and Febrile Seizures – Panel

Maple Syrup Urine Disease

Charcot-Marie-Tooth Disease – Panel

Sotos Syndrome (NSD1 – 5q35.2-q35.3)

Leigh Syndrome

Muscular Distrophy of Duchenne-Becker – DMD NGS Sequencing

Alpers Syndrome