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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.
Secondary ID
623501Useful For
Screening and treatment monitoring for sorbitol dehydrogenase deficiency-related neuropathy.
Method Name
Gas Chromatography Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
Specimen Type
Whole bloodSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Frozen (preferred) | 90 days |
| Refrigerated | 31 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.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).
Method Description
Fifty microliters of lysed whole blood are spiked with a mixture of labeled internal standards and evaporated. The dry residue is derivatized to form trimethylsilyl ethers, then extracted with hexane. Specimens are analyzed by gas chromatography mass spectrometry, selected ion monitoring using positive ammonia chemical ionization and stable isotope dilution.(Unpublished Mayo method)
Day(s) Performed
Friday
Report Available
5 to 11 daysSpecimen Retention Time
3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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 |