SHIPPING ADDRESS (use this address to send samples):
UCSD Med Ctr- Biochemical Genetics
CTF - Bldg B Room 213
212 Dickinson St.
San Diego, CA 92103
Phone: +1- 619- 543-5260
Fax: +1- 619- 543-3565
http://biochemgen.ucsd.edu/cystinosis or http://cystinosiscentral.org
The intracellular cystine content of acid-stabilized white blood cells may be used to evaluate the cystine-depleting effect of CystagonTM or to diagnose (or rule out) new cystinosis patients. White cells are used because cystine is not elevated in red cells or plasma of cystinosis patients. (It is elevated in urine also, but this is not diagnostic.) The normal value is generally less than 0.2 nmol half cystine/mg white cell protein. The cystinosis value is generally greater than 2 nmol half cystine/mg white cell protein.
Reminder: Blood must be taken before a scheduled dose of cysteamine and (for this method) processed immediately for the white cell cystine measurements to be meaningful.
|Please refer to the printed protocol posted here (PDF)|
|Step-by-step illustrated protocol posted here|