Test Code SORBU Sorbitol and Mannitol, Quantitative, Random, Urine
Ordering Guidance
This is the preferred test for monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG). The preferred test for assessing sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy is SORD / Sorbitol and Xylitol, Quantitative, Random, Urine
Necessary Information
Patient's age is required.
Specimen Required
Supplies: Urine Tubes, 10 mL (T068)
Container/Tube: Plastic, 10-mL urine tube
Specimen Volume: 2 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG)
Establishing a baseline level prior to initiating treatment for PMM2-CDG
This test is not useful for diagnosing congenital disorders of glycosylation (CDG) in general or PMM2-CDG in particular
Reporting Name
Sorbitol and Mannitol, 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 |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
Mannitol: <97 mmol/mol creatinine
Sorbitol: <35 mmol/mol creatinine
Day(s) Performed
Tuesday, Friday
Report Available
3 to 7 daysSpecimen Retention Time
3 monthsPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
82542
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
SORBU | Sorbitol and Mannitol, QN, U | 74447-4 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
614936 | Mannitol | 47698-6 |
614935 | Sorbitol | 48152-3 |
614937 | Interpretation | 59462-2 |
614938 | Reviewed By | 18771-6 |