Table 1.
Diagnosis of cystinosis by measuring cystine levels.
| Normal | ≤0.2 nmol hemicystine/mg protein |
| Nephropathic cystinosis | 5.0–23.0 nmol hemicystine/mg protein |
| Non-nephropathic cystinosis | 1.0–3.0 nmol hemicystine/mg protein |
| Heterozygous carrier | ≤1.0 nmol hemicystine/mg protein |
| Target levels for treated nephropathic cystinosis | <0.5–1.0 nmol hemicystin/mg protein |