Sign in →

Test ID SORBU Sorbitol and Mannitol, Quantitative, Random, Urine

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)


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.


Reporting Name

Sorbitol and Mannitol, QN, U

Specimen Type

Urine

Specimen Stability Information

Specimen Type Temperature Time
Urine Refrigerated (preferred) 28 days
  Frozen  28 days

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

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

Day(s) Performed

Tuesday, Friday

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

Specimen Minimum Volume

1 mL

Reference Values

Mannitol: <97 mmol/mol creatinine

Sorbitol: <35 mmol/mol creatinine