alpha-Galactosidase

Diagnostic Use

The first tier test for initial diagnosis for all Fabry requests is alpha galactosidase activity. State clearly on form: for enzymatic diagnosis of Fabry's Disease (attention Chris Leaver)
Some female heterozygotes may have normal but low alpha-galactosidase A activity. In this case recommend clinical correlation and testing plasma Lyso-GB3 as a second tier test before proceeding with molecular analysis.

For GLA mutation analysis also collect EDTA

Department

Specialist Biochemistry

Delphic Registration Code

AGAL

Synonyms

A-galactosidase
alpha-galactosidase A
Fabrys Disease
Galactosidase

Turnaround Time

6 weeks

Test Code

5824

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

5

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Additional Specimen Information

Specimen Collection Protocols In lab apply 100uL to each Guthrie spot, dry at room temperature. Place in paper envelope, NOT plastic.
Dried blood spots on Guthrie card the preferred sample for Pompe disease and alpha-galactosidase testing – blood is stable on card once dried at room temperature .
Attention Chris Leaver

Send in a paper envelope (not plastic specimen bag)

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Test Method

Tandem Mass Spectrometry

Non-Funded Test Cost

$444.26 (Exclusive of GST)

Billing Code

5824

Referred to SA Pathology, Adelaide Women's and Children's Hospital
See:
http://www.sapathology.sa.gov.au/wps/wcm/connect/SA+Pathology+Internet+Content+New/Content/Clinicians/Pathology+Collection+Guide/

Contact Information

Enquiry Form