Sign in →

Test Code SXDBS Sorbitol and Xylitol, Quantitative, Blood Spot


Ordering Guidance


This is a test for diagnosis and treatment monitoring for sorbitol dehydrogenase (SORD) 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


Fasting: 8 hours, required. Infants should not fast overnight; collect just before next feeding.

Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Card-Blood Spot Collection (Filter Paper)

Acceptable: PerkinElmer 226 filter paper, Munktell filter paper, Whatman protein Saver 903 paper, local newborn screening card, or blood collected in tubes containing EDTA (preferred) or sodium heparin and dried on filter paper.

Specimen Volume: 2 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect a Dried Blood Spot Sample.

2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

3. Let blood dry on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)


Forms

1. 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.

2. If not ordering electronically, complete, print, and send Neurology Specialty Testing Client Test Request (T732) with the specimen.

Method Name

Gas Chromatography Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis

Specimen Type

Blood Spot

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Blood Spot Ambient (preferred) 31 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Refrigerated  90 days FILTER PAPER

Reject Due To

Blood spot specimen that shows serum rings or has multiple layers Reject
Insufficient specimen Reject
Non-approved filter papers Reject

Day(s) Performed

Friday

Performing 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.