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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pseudoxanthoma elasticum


Other Names for this Disease
  • PXE
  • Gronblad Strandberg syndrome
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Tests & Diagnosis

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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.[1]  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.[1]
Last updated: 8/16/2011

References
  1. Terry SF, Bercovitch L. Pseudoxanthoma Elasticum. GeneReviews. June 12, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1113/. Accessed 5/21/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • PXE
  • Gronblad Strandberg syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.