
Polyols are ubiquitous metabolites formed by reduction of sugars. Several inborn errors of metabolism with abnormal polyol concentrations in body fluids are known to date. Urinary polyols are used in the diagnosis of transaldolase and ribose-5-phosphate isomerase deficiency.
Tube
08 (UR) – Urine
ID
Tests&Tubes0231
Additional Information
Test not routinely available. Please discuss with Robert Barski (Biochemical Genetics lab) or the Duty Biochemist (x26922 option 2). For more information, visit Laboratory Genetic Metabolic Diseases (LGMD).
Turn Around
Turnaround time stated by Amsterdam UMC Laboratory of Metabolic Genetic Diseases: 4 weeks.
Send to
Blood Sciences LGI
(Test referred to: Amsterdam UMC Laboratory of Metabolic Genetic Diseases).
Contact
For further details please contact Leeds Pathology customer services: [email protected].
Collection Con
Minimum Volume: 1ml. Instructions to lab: Store frozen. Discuss with Duty Biochemist / Rob Barski re dispatch to Amsterdam.
Sample REQ
Urine
Ref. Range Notes
Interpretation will be provided with the report.