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HelpTest Code LGB3S Globotriaosylsphingosine, Serum
Ordering Guidance
This test should not be used to determine carrier status. Order GLA / Fabry Disease, GLA Gene Sequencing with Deletion/Duplication, Varies for carrier testing.
Necessary Information
1. Patient's age is required.
2. Reason for testing is required.
Specimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 1 mL serum
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
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
Serum: 0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| 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
Interpretation
Elevation of globotriaosylsphingosine is diagnostic for Fabry disease.
Day(s) Performed
Thursday
Report Available
8 to 14 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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 |