Send PLASMA for diagnosing MNGIE. Request Plasma deoxyuridine and thymidine. Plasma is preferred as these analytes breakdown much more quickly in urine than in plasma. Send URINE for screening other purine/pyrimidine disorders
Specialist Biochemistry
SENB
Deoxyuridine
MNGIE plasma test
plasma deoxyuridine for MNGIE
plasma thymidine for MNGIE
Thymidine
10 weeks