Test ID SORD Sorbitol and Xylitol, Quantitative, Random, Urine
Ordering Guidance
This is the preferred test for assessing sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy. The preferred test for monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG) is SORBU / Sorbitol and Mannitol, Quantitative, Random, Urine
Necessary 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, 10mL (T068)
Container/Tube: Plastic, 10-mL urine tube
Specimen Volume: 2 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative needed.
Forms
1. 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.
2 If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
Useful For
Screening for sorbitol dehydrogenase deficiency-related neuropathy
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Reporting Name
Sorbitol and Xylitol, QN, USpecimen Type
UrineSpecimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Refrigerated (preferred) | 28 days | |
Frozen | 28 days |
Reference Values
Sorbitol:
<35 mmol/mol creatinine
Xylitol:
<351 mmol/mol creatinine
Day(s) Performed
Tuesday, Friday
Report Available
3 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest 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 |
---|---|---|
SORD | Sorbitol and Xylitol, QN, U | 74447-4 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
620921 | Interpretation | 59462-2 |
620922 | Sorbitol | 48152-3 |
620923 | Xylitol | 48132-5 |
620927 | Reviewed By | 18771-6 |