Clinical Use: Cystine (Leucocytes) testing is used to diagnosis cystinosis
Background: Cystinosis is a rare genetic disorder that causes an accumulation of the amino acid cystine within cells, forming crystals that can build up and damage the cells. These crystals negatively affect many systems in the body, especially the kidneys and eyes.The accumulation is caused by abnormal transport of cystine from lysosomes, resulting in a massive intra-lysosomal cystine accumulation in tissues. Via an as yet unknown mechanism, lysosomal cystine appears to amplify and alter apoptosis in such a way that cells die inappropriately, leading to loss of renal epithelial cells. This results in renal Fanconi syndrome, and similar loss in other tissues can account for the short stature, retinopathy, and other features of the disease.
Reference Ranges:
Associated Diseases:
Patient Preparation: None required
Specimen Requirements: Lithium Heparin (green top) whole blood sample
Turnaround Time: 4 weeks
Additional Information:
Referred Test: Referred test
Location: St James University Hospital