Fabry disease: Alpha-Galactosidase activity, Whole Blood

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.

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 gene analysis also collect EDTA.

Department

Specialist Biochemistry

Delphic Registration Code

AGAL

Laboratory Handling

Test Adds

Refrigerated 48 hours

Synonyms

A-galactosidase
alpha-galactosidase A
Fabrys Disease
Galactosidase

Turnaround Time

8 weeks

Test Code

5824

Specimen Type

• Whole Blood
• Guthries Card

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)
• Please refer to Additional Information below

Preferred Sample Volume (ml)

5

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)
• Please refer to Additional Information below

Preferred Sample Volume (ml)

1.0

Additional Specimen Information

Guthrie card (minimum 2 spots, 4 spots preferred), apply 100uL blood to each Guthrie spot. Dry at room temperature.

If sending whole blood (EDTA), the sample must arrive at the laboratory within 48 hours of collection (Monday – Friday, excluding public holidays). Staff will apply blood to the Guthrie card and dry at room temperature before sending to third party laboratory for testing. Sample must not be frozen. Do NOT centrifuge.

If sending a Guthrie card, ensure bloodspots are dried before sending to the laboratory. Blood is stable on the Guthrie card once dried at room temperature. Place in paper (NOT plastic) envelope.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

If sending whole blood (EDTA), the sample must arrive at the laboratory within 48 hours of collection (Monday – Friday, excluding public holidays). Staff will apply blood to the Guthrie card and dry at room temperature before sending to third party laboratory for testing. Sample must not be frozen. Do NOT centrifuge.

Test Method

Tandem Mass Spectrometry

Non-Funded Test Cost

$492.12 (Exclusive of GST)

Billing Code

5824

Referred to SA Pathology, Adelaide Women's and Children's Hospital
See:
https://www.sapathology.sa.gov.au/clinicians/testing-screening/search-test-catalogue

Contact Information

Enquiry Form

Contact Information

Enquiry Form