Category: Pediatrics

Wolf-Hirschhorn Syndrome (del4p16.3)

Cystic Fibrosis 152 mutations, Europe panel (25 Italian mutations) (NGS CE-IVD)

Primary Ciliary Dyskinesia – Panel

Primary Hyperoxaluria Type 1, 2, 3 – Panel

Mucopolysaccharidosis Type I, Hurler-Scheie Syndrome

Maple Syrup Urine Disease

Sotos Syndrome (NSD1 – 5q35.2-q35.3)

Noonan, Costello, Leopard Syndromes – Panel

Muscular Distrophy of Duchenne-Becker – DMD NGS Sequencing

Alpers Syndrome