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Test 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, WB

Specimen Type

Whole blood

Specimen 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).

Day(s) Performed

Friday

Report Available

5 to 11 days

Performing 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