Referred to Willink Laboratory, Regional Genetics Laboratory Services, St Mary's Hospital, Manchester M13 9WL|
Alternative names, keywords |
alpha-galactosidase, galactosidase A |
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Samples required |
● EDTA blood (purple cap/ yellow cap ring, 4 mL tube) for blood spot preparation in lab, or dried blood spots. |
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Test indications |
Screening test for Fabry disease. |
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Test information |
Note that female patients with Fabry disease may have normal enzyme activity so are eligible for genetic testing (R335) if clinical features characteristic of Fabry disease are present. Please download the appropriate request form from the SE Genomics Hub. |
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Reference range |
Blood spot alpha galactosidase: 6.3 - 47 pmol/punch/h |
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Turnaround time |
Referral lab quotes turnaround time of 4 weeks, however additional time must be allowed for packing, dispatch and delivery of sample, and return and processing of results. |
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Enquiries |
Biochemistry (Referrals) |