Test Catalog

Test Id : SORD

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Sorbitol and Xylitol, Quantitative, Random, Urine

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

Screening for sorbitol dehydrogenase deficiency-related neuropathy

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Method Name
A short description of the method used to perform the test

Gas Chromatography Mass Spectrometry (GC-MS)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Sorbitol and Xylitol, QN, U

Aliases
Lists additional common names for a test, as an aid in searching

SORD-related neuropathy

SORD-related peripheral neuropathy

Sorbitol dehydrogenase deficiency

SORD deficiency

SORD deficiency-related neuropathy

Peripheral neuropathy

Sorbitol

Xylitol

Sorbitol dehydrogenase

SORD

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

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

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Urine Refrigerated (preferred) 28 days
Frozen 28 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Screening for sorbitol dehydrogenase deficiency-related neuropathy

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Sorbitol:

<35 mmol/mol creatinine

 

Xylitol:

<351 mmol/mol creatinine

Interpretation
Provides information to assist in interpretation of the test results

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).

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

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.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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. doi:10.1111/ene.15793

Method Description
Describes how the test is performed and provides a method-specific reference

A total of 200 mcL of urine is spiked with a mixture of labeled internal standards, allowed to equilibrate, and evaporated. The dry residue is derivatized to form trimethylsilyl esters, then extracted with hexane. Specimens are analyzed by gas chromatography mass spectrometry, selected ion monitoring using ammonia chemical ionization and a stable isotope dilution method.(Jansen G, Muskiet F, Schierbeek H, Berger R, van der Slik W. Capillary gas chromatography profiling of urinary, plasma, and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta. 1986; 157[3]:277-294; Marolt G, Kolar M. Analytical methods for determination of phytic acid and other inositol phosphates: A review. Molecules. 2020;26[1]:174)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Tuesday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 9 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
SORD Sorbitol and Xylitol, QN, U 74447-4
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
620921 Interpretation 59462-2
620922 Sorbitol 48152-3
620923 Xylitol 48132-5
620927 Reviewed By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | PHP Pdf | CMS Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports