THYMIDINE PHOSPHORYLASE - (B)
Test Code: MIS8
Deficiency of thymidine phosphorylase is associated with Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE disease)
Blood: 8.0 mL
Pediatric Blood: 2.0 mL
DO NOT CENTRIFUGE. Preferred adult volume 8-10 mL and pediatric volume 2-5 mL whole blood.
Collect sample on Monday or Tuesday. Store in fridge and ship on ice (DO NOT FREEZE). Enzyme is not stable and must be shipped without delay to Medical Neurogenetics (MNG).
Will be included with report.
Prior arrangements must be made with the Metabolic Laboratory. Samples must be received on a Monday or Tuesday.
Refrigerate whole blood and ship on ice without delay to Health Sciences Centre MS5 for referral to Medical Neurogenetics (MNG)