| Laboratory: | Clinical Biochemistry (BIOCHEMICAL GENETICS) | ||||
| Test Name: |
GLUCOPSYCHOSINE - (P)
Test Code:
MIS8
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| Clinical Information: |
Alternate Name(s): Gaucher Biomarker, Glucosylsphingosine, Lyso-GL1
Description: Measurement of glucopsychosine in plasma by LC-MSMS
Test Indications: This test is used to support a biochemical diagnosis of Gaucher Disease (2nd tier) and to monitoring a patient’s response to treatment.
This test replaces chitotriosidase.
This test is not useful for identifying carriers of GBA variants.
Some patients with Gaucher Disease may have normal concentrations of glucopsychosine (lyso-GL1).
Test Approval Requirements: Ordering restricted to Genetics and Metabolism |
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| Collection Devices: |
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| Specimen Required: |
Plasma: 1.0 mL
Pediatric Plasma: 0.5 mL
Special Processing: 1. Centrifuge at 4°C if possible 2. Aliquot plasma into plastic vial. 3. DO NOT DISTURB or TRANSFER the BUFFY COAT LAYER 4. Send Frozen to Mayo Specimen Stability: Ambient: N/A Refrigerated: N/A Frozen: 65 days
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| Referral: |
Plasma: 1.0 mL
Pediatric Plasma: 0.5 mL
Shipping & Storage:
1. Centrifuge at 4°C if possible 2. Aliquot plasma into plastic vial. 3. DO NOT DISTURB or TRANSFER the BUFFY COAT LAYER 4. Send Frozen to HSC Metabolic Lab Referred Out Location: Mayo Clinic Laboratories test ID GPSYP |
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| Requisition: | |||||
| Reference Values: |
Reference Intervals: Provided on report
Method of Analysis: Liquid Chromatography Mass Spectrometry (LC-MSMS) |
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| Availability: |
Within 2 Weeks
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| See Also: | |||||
| More Information: |