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Test Code LAB000 - Enter Specimen type, Source, and Test Name Glucopsychosine, Blood Spot

Additional Codes

Mayo test code: GPSY

Useful For

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified

 

Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens

 

Monitoring a patient's response to treatment

 

This test is not useful for identifying carriers of GBA variants.

Reporting Name

Glucopsychosine, BS

Specimen Type

Whole blood


Ordering Guidance


This test is also available as a part of a panel; see HSMBS / Hepatosplenomegaly Panel, Blood Spot. If this test (GPSY) is ordered with either CTXBS / Cerebrotendinous Xanthomatosis, Blood Spot or OXYBS / Oxysterols, Blood Spot, the individual tests will be canceled and HSMBS ordered.



Specimen Required


Supplies:

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

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

Collection Container/Tube:

Preferred: Blood Spot Collection (Filter Paper)

Acceptable: Whatman Protein Saver 903 filter paper, PerkinElmer 226 filter paper, Munktell filter paper, Postmortem Screening card, or collected with sodium heparin, lithium heparin, ACD-B or EDTA 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 Minimum Volume

Blood spot: 1

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 showing serum rings Insufficient specimen Layering Multiple applications Reject

Reference Values

Cutoff: ≤0.040 nmol/mL

Day(s) Performed

Tuesday

Report Available

3 to 9 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
GPSY Glucopsychosine, BS 92752-5

 

Result ID Test Result Name Result LOINC Value
62236 Glucopsychosine 92752-5
36344 Reviewed By 18771-6
36345 Interpretation (GPSY) 59462-2

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

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.

Testing Algorithm

For more information see Newborn Screen Follow-up for Gaucher Disease

 

If the patient has abnormal newborn screening results for Gaucher disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)