Morquio A, MPS IVA (GALNS) Sequencing

Disorder Morquio syndrome type A, MPS IVA
Gene Name GALNS
Clinical info

Morquio syndrome, or mucopolysaccharidosis type IV, is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding, a bell-shaped chest, vertebral anomalies, joint stiffness and kyphoscoliosis. Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. Intelligence is typically not affected.

Associated Tests

Total quantitative urine glycosaminoglycans and MPS electrophoresis can be used as screening tools for a suspected MPS disorder. The diagnosis is usually established by demonstrating deficient enzyme activity for N-acetyl-galactosamine-6-sulfatase, which is available through the Biochemical Diagnostic Laboratory.

Turnaround time 3 weeks
CPT Codes Unknown mutation: 81479

Known mutation: 81404

Deletion/Duplication Analysis: 81229
Cost $1000 for full sequencing (unknown mutation)

$350 for known mutation

$700 for deletion/duplication analysis


Molecular Diagnostic Lab


Find out more