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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.


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 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. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect a Dried Blood Spot Sample.

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

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

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

5. Do not stack wet specimens.

6. 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).


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.

Reporting Name

Globotriaosylsphingosine, BS

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

Blood spot specimen that shows serum rings or has multiple layers Reject
Insufficient specimen Reject

Reference Values

Cutoff: ≤0.034 nmol/mL

Method Description

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

Report Available

3 to 9 days

Specimen Retention Time

Normal result: 2 months; Abnormal result: Indefinitely

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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