HETEROZYGOTE OR CARRIER DETECTION
BY POLYMORPHONUCLEAR LEUKOCYTES

UCSD Cystine Determination Laboratory

Email: cystine@ucsd.edu


Unfortunately, several years have passed since we conducted testing to define heterozygotes by analyte testing (polymorphonuclear leukocyte cystine content). 
The fact is that this test is not formally validated to clinical testing criteria, so in the interest of good practice wee no longer offer it.  In general, we would recommend DNA-based testing to determine carrier status (refer to GeneTests.org).


Cystinosis Central Cystine Determination Lab Description of Tests & Services