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Test Code LGBWB Globotriaosylsphingosine, Blood

Test Down Notes

Effective September 21, 2023:  This test is temporarily unavailable due to analytic issues.  The downtime is expected to be >30 days.  Order LGB3S as an alternative. See test notification here.


Ordering Guidance


Serum is the recommended specimen type for diagnosing and monitoring patients with Fabry disease. For more information see LGB3S / Globotriaosylsphingosine, Serum.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin, lithium heparin) and yellow top (ACD B)

Specimen Volume: 1 mL

Collection Instructions: Send whole blood in original vial. Do not aliquot.


Useful For

Screening of patients with Fabry disease when a serum specimen is not available

 

This test should not be used for newborn screening followup.

Method Name

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

Reporting Name

Globotriaosylsphingosine, B

Specimen Type

Whole blood

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated (preferred) 72 hours
  Ambient  48 hours

Reference Values

Cutoff: ≤0.034 nmol/mL

Interpretation

An elevation of globotriaosylsphingosine is indicative of Fabry disease, however, a normal result does not rule out Fabry disease.

Clinical Reference

1. Vardarli I, Rischpler C, Herrmann K, Weidemann F. Diagnosis and screening of patients with Fabry disease. Ther Clin Risk Manag. 2020;16:551-558. doi:10.2147/TCRM.S247814

2. Mehta A, Hughes DA. Fabry disease. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2002. Updated April 11, 2024. Accessed December 2, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1292/

3. Nowak A, Mechtler T, Kasper DC, Desnick RJ. Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and later-onset Fabry disease. Mol Genet Metab. 2017;121(4):320-324. doi:10.1016/j.ymgme.2017.06.006

4. Johnson B, Mascher H, Mascher D, et al. Analysis of lyso-globotriaosylsphingosine in dried blood spots. Ann Lab Med. 2013;33(4):274-278. doi:10.3343/alm.2013.33.4.274

Day(s) Performed

Tuesday

Report Available

3 to 9 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
LGBWB Globotriaosylsphingosine, B 92753-3

 

Result ID Test Result Name Result LOINC Value
BA4371 Interpretation (LGBWB) 59462-2
BA4370 Globotriaosylsphingosine 92753-3
BA4372 Reviewed By 18771-6