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Laboratory:

Clinical Biochemistry (BIOCHEMICAL GENETICS)

Test Name:

GLUCOPSYCHOSINE - (P)

Test Code: MIS8

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 (2^nd 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

Collection Devices:

Preferred Device:	1 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	1 - Li Heparin, NO GEL 4.0 mL Tube(s) - Full Tube Collection Li Heparin, NO GEL 4.0 mL Tube(s) - Full Tube Collection Manufacturer: BD (Becton Dickinson) Catalogue #: 367884

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

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

Requisition:

_SH Biochemical Genetics Laboratory Requisition (R250-10-69)

Reference Values:

Reference Intervals: Provided on report

Method of Analysis: Liquid Chromatography Mass Spectrometry (LC-MSMS)

Availability:

Within 2 Weeks