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 (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

Collection Devices:
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:
Reference Values:
Reference Intervals: Provided on report

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

Availability:
Within 2 Weeks
See Also:
More Information: