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Test Code 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

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

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Sorbitol dehydrogenase (SORD) deficiency is an autosomal recessive condition caused by biallelic variants in the SORD gene resulting in peripheral neuropathy, which may present as clinically similar to Charcot-Marie-Tooth disease type 2 or distal hereditary motor neuropathy. The SORD enzyme catalyzes the breakdown of sorbitol to fructose. In patients with SORD deficiency-related peripheral neuropathy, the urine polyols, sorbitol and xylitol, are elevated when compared to controls. Polyols are sugar alcohols that have been identified in blood, urine, and cerebrospinal fluid. An abnormal urine polyol result suggestive of SORD deficiency-related peripheral neuropathy should be confirmed with molecular genetic analysis. For molecular confirmation, genetic testing for SORD can be performed (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify gene list ID: NEUROLOGY-S3NL4H).

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