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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 CodeSENB
Method

Mass Spectrometry

Diagnostic Use / Indications

Monitoring patients with Fabry Disease.

The first tier test for initial diagnosis for all Fabry requests is alpha galactosidase activity.

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.

External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Specimen Collection Protocols

EDTA plasma preferred, heparinised plasma or serum OK

Patient Specimen0.5 mL EDTA plasma
Paediatric Specimen0.2 mL
Sample Delivery to LabAmbient
  

Instructions for Referral to CHLabs

 
Aliquot Instructions500 uL frozen EDTA plasma
Aliquot Transport to CHLFrozen
  

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
Delphic Number Test Number

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