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Test 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

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

Lyso-GB3, S

Specimen Type

Serum

Specimen 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

Interpretation

Elevation of globotriaosylsphingosine is diagnostic for Fabry disease.

Clinical Reference

1. Aerts JM, Groener JE, Kuiper S, et al: Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA. 2008 Feb 26;105(8)2812-2817

2. Mehta A, Hughes DA: Fabry disease. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2002. Updated January 27, 2022. Accessed January 17, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1292/

3. Laney DA, Bennett RL, Clarke V, et al: Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013 Oct;22(5):555-564

4. Laney DA, Peck DS, Atherton AM, et al: Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015 May;17(5):323-330

5. Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C: Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab. 2019 Feb;126(2):169-182

Day(s) Performed

Thursday

Report Available

8 to 14 days

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.

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