Patients having the genetic disorder that causes Cystinosis are likely to be diagnosed by a consultant paediatric nephrologist. These consultants practice in many hospitals around the UK but are organised through 13 regional centres, as listed below.
Measurement and control of the cystine levels in patients, through the administration of Cystagon, is key to their health and blood samples are taken regularly to monitor the level. These have to be analysed at one of the 5 laboratories that are certified to do this, namely Birmingham, Great Ormond Street, Leeds, Manchester Hospital and St Thomas’s/ Evelina.
Full details can be found at British Association For Paediatric Nephrology
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