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Order Code LABGOR, 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 specimen in original tube. 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 Special Container
Whole blood Refrigerated (preferred) 72 hours
  Ambient  48 hours

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Reference Values

Cutoff: ≤0.034 nmol/mL

Method Description

Whole blood is spotted onto filter paper and dried overnight. A 3-mm dried blood spot is extracted with internal standard. The extract is subjected to liquid chromatography tandem mass spectrometry (LC-MS/MS) analysis. The MS/MS is operated in the multiple reaction monitoring positive mode to follow the precursor to product species transitions for each analyte and internal standard. The ratio of the extracted peak areas to internal standard is determined by LC-MS/MS is used to calculate the concentration of in the sample.(Unpublished Mayo method)

Day(s) Performed

Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542