Quantitative Screening For Fabry Disease Using Gb3 (CTH, GL-3) Isoforms in Urine Cards
This is a screening test for Fabry Disease, a lysosomal storage disorder. It is caused by a deficiency of alpha- galactosidase causes Fabry disease; the substrate globotriaosylceramide (Gb3), also called ceramide trihexoside or GL-3, accumulates in different cell types and in body fluids.
Download Test Requisition
Department: Mass Spectrometry
Methodology: Ultrahigh Pressure Liquid (2-14C)-Pyruvate Chromatography-Tandem Mass Spectrometry of Gb3 Isoforms
Sample: LIQUID URINE:
• Urine - optimal sample volume is 10 mL; Minimum sample volume - 3 mL
• IMPORTANT NOTES:
– Collect the first morning void in a clean, sterile container with no preservatives.
– Must be a clean-catch sample.
– If frozen urine is received, 3 urine cards will be prepared in laboratory.
URINE SPOTTED ON FILTER PAPER:
Requires a special sample collection kit! Please contact the IMD at 214-820-4533 to request a kit and instructions for sample collection.
Shipping/Handling:
FOR LIQUID URINE:
Freeze urine and ship overnight on 3-4 lbs of dry ice using a guaranteed overnight courier.
FOR URINE SPOTTED ON FILTER PAPER:
Place the dried squares in the glassine envelope provided in the IMD collection kit. Place the glassine envelope and the completed test requisition inside the provided prepaid envelope and mail the sample. For trackable shipments, please use FedEx or DHL.
CPT code: 83789
Turnaround Time: 7-10 working days from sample receipt
Cost: $50.00
Related Tests: Contact the lab for more information
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