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HelpTest Code SORDB Sorbitol and Xylitol, Quantitative, Whole Blood
Ordering Guidance
This is a test for diagnosis and treatment monitoring for sorbitol dehydrogenase deficiency-related peripheral neuropathy.
Necessary Information
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
Patient Preparation:
Fasting: 8 hours, required
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium heparin)
Specimen Volume: 1 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Freeze whole blood specimens in the original tube. Frozen aliquots from well-mixed specimens are also acceptable.
3. Send frozen.
Forms
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.
Useful For
Screening and treatment monitoring for sorbitol dehydrogenase deficiency-related neuropathy.
Method Name
Gas Chromatography Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
Reporting Name
Sorbitol and Xylitol, QN, WBSpecimen Type
Whole bloodSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Frozen (preferred) | 90 days |
| Refrigerated | 31 days |
Reference Values
Sorbitol: ≤15.0 nmol/mL
Xylitol: ≤2.0 nmol/mL
Interpretation
An interpretive report will be provided.
All profiles are reviewed by the laboratory director and interpretation is based on pattern recognition. A detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, and recommendations for in vitro confirmatory studies (molecular analysis).
Clinical Reference
1. Cortese A, Zhu Y, Rebelo AP, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 2020;52(5):473-481. doi:10.1038/s41588-020-0615-4
2. Lassuthova P, Mazanec R, Stanek D, et al. Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients. Sci Rep. 2021;11(1):8443. doi:10.1038/s41598-021-86857-0
3. Pons N, Fernandez-Eulate G, Pegat A, et al. SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages. Eur J Neurol. 2023;30(7):2001-2011. doi:10.1111/ene.15793
4. Zhu Y, Lobato AG, Rebelo AP, et al. Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency. JCI Insight. 2023;8(10):e164954. Published 2023 May 22. doi:10.1172/jci.insight.164954.
5. Bontrager JE, White AL, Brigatti KW, et al. Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy. Neurology. 2025;105(11):e214425. doi:10.1212/WNL.0000000000214425
Day(s) Performed
Friday
Report Available
5 to 11 daysPerforming 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 |
|---|---|---|
| SORDB | Sorbitol and Xylitol, QN, WB | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 623504 | Interpretation | 59462-2 |
| 623502 | Sorbitol | In Process |
| 623503 | Xylitol | In Process |
| 623505 | Reviewed By | 18771-6 |