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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeAGAL
Method

Tandem Mass Spectrometry

Diagnostic Use / Indications

 

 

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

 

External Price$414.75(Exclusive of GST)
  

Specimen Collection

 
Specimen Collection Protocols

In lab apply 100uL to each Guthrie spot, dry at room temperature. Place in paper envelop NOT plastic. Attention Chris Leaver

Patient SpecimenEDTA blood - lavender (attention Chris Leaver)
Paediatric Specimen1 mL EDTA blood (attention Chris Leaver)
Sample Delivery to Labambient
Aliquot Transport to CHLambient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Specialist
Contact Details Email Email
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Contact Phone Number(03) 364 0118 | x80118
Turnaround Time4-6 weeks
Referred toSA Pathology, Adelaide Women's and Children's Hospital
Additional Information

See

 
Delphic Number Test Number5824

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