List of diseases covered by
Mucopolysaccharidosis NGS panel
Gene | Condition |
ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) |
GALNS | Mucopolysaccharidosis IVA |
GLB1 | GM1-gangliosidosis, type I; GM1-gangliosidosis, type II; GM1-gangliosidosis, type III; Mucopolysaccharidosis type IVB (Morquio) |
GNS | Mucopolysaccharidosis type IIID |
GUSB | Mucopolysaccharidosis VII |
HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C); Retinitis pigmentosa 73 |
HYAL1 | Mucopolysaccharidosis type IX |
IDS | Mucopolysaccharidosis II |
IDUA | Mucopolysaccharidosis Ih; Mucopolysaccharidosis Ih/s; Mucopolysaccharidosis Is |
NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B); Charcot-Marie-Tooth disease, axonal, type 2V |
SGSH | Mucopolysaccharidosis type IIIA (Sanfilippo A) |