Category: Neurology

Neurofibromatosis – Panel

Phenylketonuria, Phenylalanine Hydroxylase Deficiency PAH

Neurofibromatosis Type 2

Congenital Muscular Dystrophy – Dystroglycanopathy – Panel

Leber Hereditary Optic Neuropathy (LHON)

Striopallododentate calcinosis bilateral type 1 and type 5 (Fahr Syndrome)

Periodic Paralysis

Septooptic Dysplasia

Mucopolysaccharidosis – Panel

Pitt-Hopkins Disease and Related Syndromes