Home
HelpPolyols, Quantitative, Urine
Useful For
Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase
Reporting Name
Polyols, QN, USCH Clinical System Name: Miscellaneous Test
Specimen Type
UrineNecessary Information
1. Patient's age is required.
2. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Supplies: Urine Tubes, 10 mL (T068)
Specimen Volume: 2 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Refrigerated (preferred) | 28 days | |
| Frozen | 28 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
ERYTHRITOL
≤11 months: <220 mmol/mol creatinine
1-3 years: <267 mmol/mol creatinine
4-17 years: <171 mmol/mol creatinine
>or =18 years: <99 mmol/mol creatinine
ARABINITOL
≤11 months: <140 mmol/mol creatinine
1-3 years: <149 mmol/mol creatinine
4-17 years: <97 mmol/mol creatinine
>or =18 years: <51 mmol/mol creatinine
RIBITOL
≤11 months: <31 mmol/mol creatinine
1-3 years: <31 mmol/mol creatinine
4-17 years: <17 mmol/mol creatinine
>or =18 years: <11 mmol/mol creatinine
SEDOHEPTULOSE
≤11 months: <76 mmol/mol creatinine
1-3 years: <27 mmol/mol creatinine
4-17 years: <28 mmol/mol creatinine
>or =18 years: <22 mmol/mol creatinine
Method Description
Urine specimens are spiked with a mixture of labeled internal standards, allowed to equilibrate, and evaporated. The dry residue is derivatized to form trimethylsilyl esters then extracted with hexane. Specimens are analyzed by gas chromatography mass spectrometry, selected ion monitoring using ammonia chemical ionization and a stable isotope dilution method.(Jansen G, Muskiet F, Schierbeek H, et al. Capillary gas chromatography profiling of urinary, plasma, and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta 1986;157(3):277-294, Kaur P, Wamelink MMC, van der Knaap MS, et al. Confirmation of a rare genetic leukoencephalopathy due to a novel bi-allelic variant in RPIA. Eur J Med Genet. 2019;62(8):103708. doi:10.1016/j.ejmg.2019.103708)
Day(s) Performed
Tuesday; Friday
Report Available
3 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| TALDO | Polyols, QN, U | 74447-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 35824 | Erythritol | 48107-7 |
| 35825 | Arabinitol | 47829-7 |
| 35826 | Ribitol | 47884-2 |
| 35827 | Sedoheptulose | 78967-7 |
| 35829 | Interpretation (TALDO) | 74448-2 |
| 35830 | Reviewed By | 18771-6 |
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.