Order Code LGB3S Globotriaosylsphingosine, Serum
Ordering Guidance
This test should not be used to determine carrier status. Order FABRZ / Fabry Disease, Full Gene Analysis, Varies for carrier testing.
Necessary Information
1. Patient's age is required.
2. Reason for testing is required.
Specimen Required
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 1 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Diagnosis and monitoring of Fabry disease
Genetics Test Information
This test is used to diagnose and monitor patients with Fabry disease.
Testing Algorithm
The following algorithms are available:
-Fabry Disease: Newborn Screen-Positive Follow-up
-Fabry Disease Diagnostic Testing Algorithm
Special Instructions
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Lyso-GB3, SSpecimen Type
SerumSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Serum | Frozen (preferred) | 90 days | |
Refrigerated | 48 hours |
Reject Due To
Gross hemolysis | OK |
Gross lipemia | Reject |
Gross icterus | OK |
Reference Values
≤1.0 ng/mL
Method Description
Internal standard is added to the serum. Globotriaosylsphingosine (LGb3) is extracted from the serum prior to injection onto a liquid chromatography tandem mass spectrometry (LC-MS/MS) system. Following chromatographic isolation, the concentration is measured by MS/MS analysis in the selected reaction monitoring positive mode. The ratio of extracted peak area to internal standard is utilized to calculate the concentration of LGb3 in the sample.(Unpublished Mayo method)
Day(s) Performed
Thursday
Performing Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
82542