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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.

Secondary ID

65532

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

Reject Due To

Gross hemolysis OK
Gross lipemia Reject
Gross icterus OK

Reference Values

≤1.0 ng/mL

Method Description

Internal standard is added to the serum. Globotriaosylsphingosine (LGb3) is extracted from the serum prior to injection onto a liquid chromatography tandem mass spectrometry (LC-MS/MS) system. Following chromatographic isolation, the concentration is measured by MS/MS analysis in the selected reaction monitoring positive mode. The ratio of extracted peak area to internal standard is utilized to calculate the concentration of LGb3 in the sample.(Unpublished Mayo method)

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