Category: Endocrinology & Metabolic Disorders

Kallmann Syndrome, KAL1 (delXp22.31)

Galactosemia – Main Mutations

Bardet-Biedl Syndrome

Propionic Acidemia

Cystic Fibrosis 139 mutations, Europe panel (NGS CE-IVD)

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

Interleukin 2 G-385T

Primary Ciliary Dyskinesia – Panel

Primary Hyperoxaluria Type 1, 2, 3 – Panel

Mucopolysaccharidosis Type I, Hurler-Scheie Syndrome