Definition

Mucopolysaccharidosis type IVA (Morquio A syndrome) is an autosomal recessive lysosomal storage disease caused by N-acetylgalactosamine-6-sulfatase enzyme deficiency resulting from biallelic variants in the GALNS gene. Enzyme deficiency presents with pronounced skeletal dysplasia, joint hypermobility, and corneal clouding; intellectual disability is typically not observed.

Gene/region examined

GALNS - Exon 1, GALNS - Exon 2, GALNS - Exon 3, GALNS - Exon 4, GALNS - Exon 5, GALNS - Exon 6, GALNS - Exon 7, GALNS - Exon 8, GALNS - Exon 9, GALNS - Exon 10, GALNS - Exon 11, GALNS - Exon 12, GALNS - Exon 13, GALNS - Exon 14

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal recessive.

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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