Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare autosomal recessive peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, congenital contractures, characteristic ocular involvement, severe intellectual disability and spasticity. Characteristic facial features include broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears and micrognathia. RCDP presents in the neonatal period and most affected individuals die in the first decade of life, although milder forms of RCDP can present with variable growth and developmental delays and survival into adulthood. Pathogenic variants in PEX7  account for more than 90% of patients with RCDP1. The finding of a deficiency of plasmalogens in red blood cells, increased plasma concentration of phytanic acid, and normal plasma concentration of very long chain fatty acids is consistently identified in individuals with PEX7 variants. This panel includes sequence and deletion/duplication analysis of all the listed genes. 

4 weeks
CPT Code 
Test Code 
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA