At the time of the collection, these blood donors naturally asked questions such as:

• What will you learn from my blood?
• Will you tell me what you have found?
• Do my children have PXE?
• Do my siblings have PXE?
• Will my grandchildren be affected?

The new genetic test for PXE will help to answer these questions.

Our research has been very fruitful over the past several years with the PXE International Research Consortium (PIRC), a group of scientists that have discovered over 100 mutations in the ABCC6 gene that cause PXE.

Their work contributed to developing the PXE test. It was finally brought to fruition through a partnership sponsored by the NIH Office of Rare Diseases called Collaboration Education and Test Translation (CETT). The CETT program was developed by a number of individuals, including PXE International´s executive director, to address the problems around genetic testing for rare diseases.

The program requires a laboratory, a physician/researcher and a support group to work together to create the test. GeneDx, a laboratory dedicated to rare disease testing in Gaithersburg, MD, agreed to develop the PXE test. Dr. Lionel Bercovitch, the medical director of PXE International, is the clinician/researcher who worked to develop the test. Of course, PXE International is working on the test team as the support organization. All of the information collected in the CETT test is combined in a single database without any personal identifiers, to be used by scientists to understand PXE and other conditions better. You can learn more about the CETT program at: www.CETTprogram.org.

Find all the necessary forms and information about the genetic test on this site or on the GeneDx site (http://www.genedx.com/services/dis_pxe.php). If it is possible for you, we would like you to fill out the Clinical Data Form online.  To do this, please request an ID and Password for the online form from the PXE International office by emailing info@pxe.org or calling 202.362.9599.