Category: Pediatrics

Overgrowth Syndromes (Simpson-Golabi-Behmel, Sotos, Beckwith-Wiedemann, Weaver) – Panel

Coloboma

Steatocystoma Multiplex

Aromatic L-Amino Acid Decarboxylase Deficiency

Galactosemia – Panel

Glycogen Storage Disease Type 1A

Fragile X, (FRAXE), intellectual disability associated with fragile site FRAXE

Muscolar Dystrophy of Duchenne-Becker – Carrier Test

Digeorge Syndrome (del22q11.2)

Apert Syndrome – Main Mutations