Mucopolysaccharidosis (MPS) is a group of progressive disorders with features ranging over a continuum of severity. MPS is considered a prototype of lysosomal storage disorder caused by accumulation of glycosaminoglycans (GAG) in the arteries, skeleton, eyes, joints, ears, respiratory system, liver, spleen, and central nervous system. MPS affects multiple organ systems. There are several different types and subtypes of mucopolysaccharidosis.  In most cases of MPS, affected individuals appear normal at birth and symptoms become apparent around the age of one or two. The common findings include coarse facial features, frequent upper-respiratory infections, inguinal or umbilical hernia, hepatosplenomegaly, gibbus deformity, joint constriction, and corneal clouding. Additional findings include short stature, heart abnormalities, and neurological abnormalities such as developmental delay and intellectual disability.

Connective Tissue Gene Tests Mucopolysaccharidosis NGS panel consists of genes associated with different types of mucopolysaccharidosis and related disorders. The Mucopolysaccharidosis NGS panel includes fourteen genes: ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDUA, IDS, MCOLN1, NAGLU and SGSH.

Copy number variation (CNV) analysis of the Mucopolysaccharidosis genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.