Definition

The GLA gene (Xq22.1) encodes the lysosomal enzyme alpha-galactosidase A; its deficiency leads to accumulation of globotriaosylceramide, causing multisystem involvement (kidney, heart, nervous system, skin). The incidence of classic Fabry disease is estimated at 1:50,000 to 1:117,000 in males, while newborn screening data indicate that the late-onset variants are much more common (1:2,913 to 1:9,000).

Gene/region examined

GLA - Exon 1, GLA - Exon 2, GLA - Exon 3, GLA - Exon 4, GLA - Exon 5, GLA - Exon 6, GLA - Exon 7

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, X-linked; hemizygous males are affected, heterozygous females may show a variable clinical picture.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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