Definition

The LCAT gene encodes the lecithin-cholesterol acyltransferase enzyme, which esterifies cholesterol on the surface of HDL in plasma. Mutations that abolish both the alpha and beta activity of the enzyme lead to Norum disease (corneal clouding, hemolytic anemia, kidney failure); milder mutations that only impair alpha-LCAT activity lead to fish-eye disease (low HDL, corneal opacities but no anemia/kidney involvement).

Gene/region examined

LCAT - Exon 1, LCAT - Exon 2, LCAT - Exon 3, LCAT - Exon 4, LCAT - Exon 5, LCAT - Exon 6

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

Go to term →

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

Go to term →

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.

Go to term →

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

A genetic test result falls into three main categories

Go to term →

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.

Go to term →