Mucopolysaccharidosis-Plus Syndrome via the VPS33A Gene

This test is suitable for patients with an infancy-onset syndromic presentation including failure to thrive, coarse facial features, joint stiffness, skeletal abnormalities, recurrent respiratory infections, and respiratory distress. This test may be especially suitable for a patient presenting with an MPS-like disorder in the absence of lysosomal enzyme deficiencies upon biochemical testing. Due to high genetic heterogeneity of lysosomal storage disorders, immunodeficiency disorders, and hereditary causes of developmental delay, VPS33A could be included as part of a larger sequencing panel or genome test. Targeted testing is indicated for family members of patients who have known pathogenic variants in VPS33A. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in VPS33A.