Other Disorders
| Test | Required specimen & volume | Special precautions | Turnaround time | Reference ranges | Section |
|---|---|---|---|---|---|
|
Arylsulphatase C (Steroid sulphatase) X-linked Ichthyosis |
5ml EDTA | To reach the laboratory within 72 hours of venepuncture | 4 working weeks | In-assay controls quoted | Lysosomal |
|
7-dehydrocholesterol Smith-Lemli-Opitz syndrome |
2ml EDTA | None | 4 working weeks | < 10 µmol/L | Metabolites |
|
Cholestanol Cerebrotendinous Xanthamatosis (CTX) |
2ml EDTA | None | 4 working weeks | < 16 µmol/L | Metabolites |