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Test ID OLIWB Oligosaccharidoses Screen, Leukocytes

Useful For

Screening for a subset of oligosaccharidoses in leukocytes

Genetics Test Information

This is a screening method for several oligosaccharidoses. Additional biochemical or molecular genetic testing is required to confirm abnormal results.

Highlights

The oligosaccharide screening test analyzes the activity of 4 enzymes in leukocytes via tandem mass spectrometry.

 

Deficiency or absence of these enzymes is associated with 5 different oligosaccharidoses, including alpha-mannosidosis, beta-mannosidosis, alpha-fucosidosis, GM1 gangliosidosis, and Morquio B.

 

Patients with mild clinical phenotypes may not be detected by this test.

Method Name

Enzyme Reaction Assay Followed by Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Reporting Name

Oligosaccharidoses Screen, WBC

Specimen Type

Whole Blood ACD

Specimen Required

Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A)

Specimen Volume: 6 mL

Collection Instructions: Do not transfer blood to other containers. Do not centrifuge.


Shipping Instructions:

For optimal isolation of leukocytes, it is recommended the specimen arrive within 96 hours of draw to be stabilized. Draw specimen Monday through Thursday only and not the day before a holiday. Specimen should be drawn and packaged as close to shipping time as possible.


Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  4 days

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
OLIWB Oligosaccharidoses Screen, WBC In Process

 

Result ID Test Result Name Result LOINC Value
35879 Oligosaccharidoses Screen, WBC 82507-5
35878 Reviewed By No LOINC Needed

Test Classification

This test has been modified from the manufacturer's instructions. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Forms

1. Biochemical Genetics Patient Information (T602) in Special Instructions.

2. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)