UCSD Cystine Determination Laboratory

Email: cystine@ucsd.edu

Previous work showed that it was possible to make the diagnosis of cystinosis in a newborn baby in some cases by examination of the placenta. Unfortunately, we have found considerable variation in examination of placentas, and we are not able to validate the test to the standard we feel is required for clinical testing.   At the same time, DNA testing has become feasible in recent years, and although the question may not be resolved in all families, it is more reliable to proceed to molecular testing (see GeneTests.org) or to wait until the newborn baby is a few weeks of age to send routine testing ion order to establish the diagnosis.

Cystinosis Central Cystine Determination Lab Description of Tests & Services