Sponsored diagnostic testing programs for Pseudoxanthoma Elasticum (PXE)
Pseudoxanthoma elasticum (PXE) is a rare inherited disorder caused by pathogenic variants in the ABCC6 gene, leading to abnormal mineralization of elastic fibers in the skin, eyes, and blood vessels. PXE can cause characteristic skin changes, vision problems from retinal involvement, and vascular complications that may progress over time. Genetic testing helps confirm the diagnosis and assess family risk.
1 program found for Pseudoxanthoma Elasticum (PXE)
Sponsored by Inozyme Pharma, this program offers global, no-cost genetic testing for the ABCC6 gene linked to PXE. Testing is available for patients who meet program eligibility criteria and must be ordered by a qualified health care provider.
