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HelpTest ID SORD Sorbitol and Xylitol, Quantitative, Random, Urine
Ordering Guidance
This is the preferred test for assessing sorbitol dehydrogenase 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.
3. Refrigerate immediately.
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:
Secondary ID
620920Useful For
Screening for sorbitol dehydrogenase deficiency-related neuropathy
Specimen Type
UrineSpecimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| 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
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 Rochester
CPT Code Information
82542