Welcome and thank you for your interest in cystinosis.
We’ve compiled comprehensive information on cystinosis basics, including clinical characteristics, diagnosis, treatment, and supportive therapies, here.
Explore disease-specific education and program information such as:
- Abstracts and articles
- Standards of care
- Medical professionals brochure
- Cystinosis transition management tool
Review the CRN grant guidelines where clinical and basic interventional research leading to improved treatments for cystinosis is given top priority.
WBC cystine level testing
Information for your patients regarding gratis testing is now available. Patients should consult with a treating physician to request a WBC cysteine level collection kit. Questions can be directed to: connect@HorizonPharma.com.
UCSD Cystine Determination Lab
CTF – Bldg B Room 213
212 Dickinson Street
San Diego, CA 92103
Phone: 619-543-5260
Fax: 619-543-3565
Technical Contact: Bernadette Libatique, CLS, Laboratory Technician
Email: blibatique@ucsd.edu
Clinical Contact / Principal Investigator: Bruce A. Barshop, M.D., Ph.D., Professor of Pediatrics
Email: bbarshop@ucsd.edu
Billing Contact: Bonnie Holmes, Laboratory Manager
Email: bholmes@ucsd.edu