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
Smith-Lemli-Opitz syndrome
2ml EDTA None 4 working weeks < 10 µmol/L Metabolites
Cerebrotendinous Xanthamatosis (CTX)
2ml EDTA None 4 working weeks < 16 µmol/L Metabolites