Sorbitol and Xylitol, Quantitative, Urine (Sendout)

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General Information

Lab Name
Lab Code
1143
External Test Id
SORD
Description

Useful For: Screening for sorbitol dehydrogenase deficiency-related neuropathy

    Ordering Requirements: A completed Mayo Biochemical Genetics Patient Information form is recommended for interpretation of results, but not required for testing. If included, forms may be uploaded to the patient's chart under Media (preferred) or accompany the sample to the laboratory.

    References
    Synonyms
    Peripheral neuropathy, Sorbitol, Sorbitol dehydrogenase, Sorbitol dehydrogenase deficiency, SORD, SORD deficiency, SORD deficiency-related neuropathy, SORD-related neuropathy, SORD-related peripheral neuropathy, Xylitol
    Components

    Interpretation

    Method

    Gas Chromatography Mass Spectrometry (GC-MS)

    Reference Range
    Ref. Range Notes

    Reference Values:

    Sorbitol: <35 mmol/mol creatinine
    Xylitol: <351 mmol/mol creatinine

    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).

    Interferences and Limitations

    Cautions: A positive test result is diagnostic of sorbitol dehydrogenase (SORD) deficiency-related neuropathy; however, it is strongly recommended to follow-up with molecular analysis. Molecular analysis of the SORD gene is complicated by the SORD2P pseudogene and specific molecular testing approaches maybe required.

    References

    Ordering & Collection

    Specimen Type
    Urine
    Collection

    2 mL random urine in a urine collection container

    Handling Instructions

    Outside Laboratories:

    • Aliquot 2 mL urine into a separate plastic vial and refrigerate the sample while awaiting shipment. Transport with a cold pack.
    • A completed Mayo Biochemical Genetics Patient Information form is recommended for interpretation of results, but not required for testing.

    Stability: Refrigerated (preferred): 28 days; Frozen: 28 days; Ambient: Unacceptable.

    Quantity
    Requested: 2 mL urine
    Minimum: 1 mL urine

    Processing

    Receiving Instructions

    Aliquot at least 2 mL urine to a screw-capped plastic vial and refrigerate.

    Login: SEND1-;REFRIG URINE

    • RSNDT1: MAYO
    • RSTYP1: URN-RAND
    • RTSRQ1: ;Sorbitol and Xylitol, Quant Urine (Mayo Test SORD)

    Sendouts:

    • Order Mayo Test: SORD

    Stability: Refrigerated (preferred): 28 days; Frozen: 28 days; Ambient: Unacceptable.

    Misc Sendout

    Performance

    Lab Department
    Frequency
    Performed: Tuesday, Friday. Reported: 3 to 7 days from sample receipt at Mayo Clinic Labs.
    Available STAT?
    No
    Performing Location(s)
    Sendout Mayo Clinic Laboratories
    800-533-1710

    200 First Street Southwest
    Rochester, MN 55901

    Billing & Coding

    Billing Comments

    CPT: 82542