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Test 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. 

Method Name

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

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

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. This test has not been cleared or approved by the US Food and Drug Administration.

Report Available

3 to 9 days

NY State Approved

Yes

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.