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How is Cystinosis Diagnosed?

  • Cystinosis can be confirmed by measuring the level of cystine in the white blood cells which is always elevated in a positive diagnosis.
  • An ophthalmologist will make a slit lamp examination of the eyes to check for the presence of crystal deposits on the cornea.
  • Prenatal diagnosis is available for families known to be at risk for having a child with Cystinosis.  Chorionic villus sampling is performed at 8-9 weeks of gestation and amniocentesis is performed at 14-16 weeks of gestation.

Hope will find a cure

Text MINI to 50300 to donate €4

Text MINI - 100% of your donation goes to Cystinosis Ireland across most network operators. Some operators apply VAT which means that a minimum of €3.25 goes to Cystinosis Ireland. Service Providers LIKECHARITY. Helpline 0766805278