Definition

The LIPA gene (10q23.31) encodes lysosomal acid lipase; severe deficiency of this enzyme leads to accumulation of triglycerides and cholesteryl esters in the liver, spleen, intestine, and adrenal glands. Wolman disease presents in infancy with severe hepatosplenomegaly and malabsorption and is fatal within the first year if left untreated; the milder, later-onset form is called cholesteryl ester storage disease (CESD).

Gene/region examined

LIPA - Whole Gene

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Inherited, 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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