How to diagnose Pseudoxanthoma elasticum ?
What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene.  Eighty percent of individuals affected with PXE are found to have mutations in the ABCC6 gene by the genetic testing currently available.  Once the ABCC6 mutations that cause PXE in a family are identified, unaffected relatives may be tested for the familial mutations to determine whether or not they are carriers.