Polyols, Quantitative, Urine
Use
Polyols are sugar alcohols identified in blood, urine, and CSF. Characteristic abnormal urinary polyol patterns may indicate inborn errors of the pentose phosphate pathway, including transaldolase (TALDO), transketolase, and ribose‑5‑phosphate isomerase (RPI) deficiencies. This assay is the method of choice for biochemical screening of these disorders. Sedoheptulokinase deficiency may also be detected, though its clinical correlation is unclear. Abnormal results should be confirmed via enzymatic or molecular genetic testing. Interpretation is pattern‑based and supported by comprehensive report including differential diagnosis and follow‑up guidance. (Summarized from “Clinical Information”, “Highlights”, “Genetics Test Information”, and interpretive content.)
Special Instructions
Not provided.
Limitations
A positive result is diagnostic for transaldolase or RPI deficiency, but confirmation by molecular analysis is strongly recommended. Interpretation may be affected by improper specimen collection, handling, or inappropriate test selection. All profiles are reviewed by laboratory director and interpretation is pattern‑based; correlation to clinical presentation is critical. (From “Cautions” and interpretive description.)
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 74447-4 - Sugars+polyols Pnl Ur-sRto
- 48107-7 - Erythritol/Creat Ur-sRto
- 47829-7 - Arabitol/Creat Ur-sRto
- 47884-2 - Ribitol/Creat Ur-sRto
- 78967-7 - Sedoheptulose/Creat Ur-sRto
- 74448-2 - Sugars and polyols pattern Ur-Imp
- 18771-6 - Provider signing name
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
2 mL
Minimum Volume
1 mL
Container
Urine Tubes, 10 mL (T068)
Collection Instructions
Collect a random urine specimen; no preservative.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | Refrigerated (preferred) 28 days |
| Frozen | Frozen 28 days |
