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HelpTest ID GPSY Glucopsychosine, Blood Spot
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.
Genetics Test Information
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucosidase activity.
There are 3 described types of Gaucher disease with varying clinical presentations generally distinguished based on whether there is central nervous system involvement.
Glucopsychosine (glucosylsphingosine: lyso-GL1) is elevated in symptomatic patients and supports a diagnosis of Gaucher disease.
Special Instructions
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Glucopsychosine, BSSpecimen Type
Whole bloodOrdering 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 |
Reference Values
Cutoff: ≤0.040 nmol/mL
Day(s) Performed
Tuesday
Performing Laboratory
Mayo Clinic Laboratories in Rochester
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 |
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.Report Available
3 to 9 daysNY State Approved
YesForms
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)