LysoGB3

Diagnostic Use

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.

Department

Specialist Biochemistry

Delphic Registration Code

SENB

Synonyms

LysoCTH

Turnaround Time

6 weeks

Specimen Type

• Plasma

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• Serum (Red Cap)
• SST II (Gold Cap)
• Lithium Heparin - Non-gel (Green Cap)
• Lithium Heparin - Gel (Green Cap)

Preferred Sample Volume (ml)

0.5

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

0.2

Aliquot Instructions

Sample Type

• Plasma

Minimum Volume (ml)

0.5

Transport to Lab

Frozen
If overnight - Frozen

Test Method

Mass Spectrometry

Contact Canterbury Health Laboratories on +64 3 364 0484 or email LabInfo@cdhb.health.nz

Referred to SA Pathology, Adelaide Women's and Children's Hospital

Contact Information

Enquiry Form