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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:

-Neurology Specialty Testing Client Test Request (T732)

-Biochemical Genetics Test Request (T798

Useful For

Screening for sorbitol dehydrogenase deficiency-related neuropathy

Genetics Test Information

This test is used to aid in the diagnosis of patients with sorbitol dehydrogenase-related peripheral neuropathy.

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Reporting Name

Sorbitol and Xylitol, QN, U

Specimen Type

Urine

Specimen 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 days

Performing 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
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

NY State Approved

Yes