Alpha-Galactosidase A (Fabry's Disease)

Chemical Pathology

Notes

Deficiency of the enzyme alpha-galactosidase, results in Fabry's disease, an X-linked, recessive, lysosomal storage disease, also known as Anderson-Fabry disease.

Measurement of alpha-galactosidase levels is indicated in patients with signs and symptoms suggestive of Fabry's.

Low or undetectable levels of alpha-galactosidase in males is consistent with Fabry's and can be confirmed by genetic testing.

As the disorder is sex-linked, although low levels are consistent with the disease in females, normal levels do not exclude the condition. Therefore, additional genetic testing may be required in females. This cascade testing can be performed automatically if consent for genetic testing is indicated at the time the sample is received by the laboratory.

Sample requirements

4 ml of blood taken into an EDTA tube

If the sample volume is small or there is expected to be a delay in referring the sample, bloodspots can also be used.

Storage/transport

Do not store. Samples should be collected early morning, Monday to Friday only and reach the laboratory before midday.

Required information

Relevant clinical details including reason for the test.

Repeat analysis is not normally required.

Turnaround times

Samples are sent for analysis to the Willink Laboratory in Manchester, with result expected within 5 weeks.

Reference ranges

Plasma: 3-20 nmol/ml/hr

Leucocytes: 10-50 nmol/mg/hr

Bloodspot: 6.3 - 47.0 pmol/punch/hr

A control enzyme will also be tested for and reported alongside this result.

Further information

To learn more visit Patient.co.uk

Page last updated: 04/08/2023