Test ID 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 |
Reference Values
≤1.0 ng/mL
Day(s) Performed
Thursday
Report Available
8 to 14 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest 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.CPT Code Information
82542
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
LGB3S | Lyso-GB3, S | 90234-6 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
BG708 | Reason for Referral | 42349-1 |
65532 | Lyso-GB3, S | 90234-6 |
113176 | Interpretation (LGB3S) | 59462-2 |
113177 | Reviewed By | 18771-6 |