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Order 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

Genetics Test Information

This test is used to diagnose and monitor patients with 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The ratio of extracted peak area to internal standard is utilized to calculate the concentration of LGb3 in the sample.(Unpublished Mayo method)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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542