Definition

The AGA gene encodes the lysosomal enzyme aspartylglucosaminidase; its deficiency leads to the accumulation of glycoproteins in lysosomes. Early development is normal, but around 2-3 years of age progressive intellectual disability, impaired motor coordination, loss of speech, coarse facial features and fragile bones develop; seizures and psychiatric findings are added in adulthood.

Gene/region analyzed

AGA - Exon 1, AGA - Exon 2, AGA - Exon 3, AGA - Exon 4, AGA - Exon 5, AGA - Exon 6, AGA - Exon 7, AGA - Exon 8, AGA - Exon 9

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal recessive; particularly common in Finland.

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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