Polyols (urine)
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 https://www.amc.nl/web/laboratory-genetic-metabolic-diseases-lgmd/metabolites.htm |
| 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: leedsth-tr.pathologycustomerservice@nhs.net. |
| 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. |
| Telepath | UPOL1R & SA1R |
