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Laboratory:

Clinical Biochemistry (BIOCHEMICAL GENETICS)

Test Name:

ALPHA-GALACTOSIDASE - (S)

Test Code: AGAB

Clinical Information:

Test Indications: Synonym: Anderson-Fabry, Fabry, Lysosomal Enzymes.

This test is for the investigation of Fabry disease in MALE PATIENTS ONLY based on clinical presentation (X-linked disease). Test is not useful in female patients.

It has been reported that 30% of heterozygous female patients with Fabry showed normal enzyme activity.

Individuals with pseudodeficiency allelic variants can show reduced alpha-galactosidase A enzyme activity with this assay.

This test is not useful for carrier determination.

Restriction: This test is considered specialty testing and can only be ordered by neurologists, nephrologists, cardiologists and geneticists; this test will be cancelled if sufficient clinical justification is not provided.

Test Approval Requirements: neurologists, nephrologists, cardiologists and geneticists. Only male patients will be tested.

Clinical Practice Change - Fabry Protocol

Collection Devices:

Preferred Device:	1 - Serum Tube(s), NO GEL - Full Tube Collection Serum Tube(s), NO GEL - Full Tube Collection Manufacturer: Becton Dickinson Catalogue #: 366430
Alternate Device:	1 - Serum Separator (SST) Tube(s) - Full Tube Collection Serum Separator (SST) Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson Catalogue #: 367986

Specimen Required:

Serum: 2.0 mL

Pediatric Serum: 0.2 mL

Referral:

Shipping & Storage: Store and ship frozen to HSC, will be rejected if thawed during transport. Send the requisition (or a clear copy) with the sample.

Stability:
Frozen 14 days
Refrigerated: 24 hours

Requisition:

_SH Biochemical Genetics Laboratory Requisition (R250-10-69)

Reference Values:

0.074-0.457 U/L

Availability:

Within 3 Weeks