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Test Code LGBBS Globotriaosylsphingosine, Blood Spot

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.

Reporting Name

Globotriaosylsphingosine, BS

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Screening of patients with Fabry disease using dried blood spots 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)


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


Supplies:

-Card-Blood Spot Collection (Filter Paper) (T493)

-Card-Postmortem Screening (Filter Paper) (T525)

Container/Tube:

Preferred: Blood Spot Collection Card (Filter Paper)

Acceptable: Whatman Protein Saver 903 filter paper, PerkinElmer (formerly Ahlstrom) 226 filter paper, Munktell filter paper, Postmortem Screening Card or collected with EDTA, sodium heparin, lithium heparin, or ACD B-containing devices

Specimen Volume: 2 Blood spots

Collection Instructions:

1. Let blood dry completely on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

2. At least 1 spot should be complete, (ie, unpunched).

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).


Specimen Type

Whole blood

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 10 days FILTER PAPER
  Frozen  59 days FILTER PAPER
  Ambient  10 days FILTER PAPER

Reject Due To

Shows serum rings
Insufficient specimen
Layering
Multiple applications		 Reject

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.

Day(s) Performed

Tuesday

Report Available

3 to 9 days

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
LGBBS Globotriaosylsphingosine, BS 92754-1

 

Result ID Test Result Name Result LOINC Value
BA4368 Interpretation (LGBBS) 59462-2
BA4367 Globotriaosylsphingosine 92754-1
BA4369 Reviewed By 18771-6