Definition

The LAMP2 gene encodes a glycoprotein in the lysosomal membrane that facilitates the fusion of autophagic vesicles with lysosomes. Variants cause autophagic vesicles to accumulate, leading to swelling and cell death in heart and skeletal muscle cells. The classic triad is cardiomyopathy, skeletal myopathy and intellectual difficulties; males become symptomatic in childhood/adolescence and females in early adulthood.

Gene/region analyzed

LAMP2 - Whole Gene

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, X-linked inheritance.

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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