Definition

The LMNA gene encodes the Lamin A/C proteins that support the nuclear envelope. Depending on the mutation location, a broad range of phenotypes can result: Dunnigan type familial partial lipodystrophy with post-pubertal fat loss in the limbs, and Emery-Dreifuss muscular dystrophy type 2/3 with early contractures, progressive muscle weakness, and cardiac conduction disorders; this 'laminopathy' family also includes dilated cardiomyopathy and Hutchinson-Gilford progeria syndrome.

Gene/region examined

LMNA - Whole gene

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary; FPLD2 and EDMD2 are typically autosomal dominant, while EDMD3 defines a rarer autosomal recessive form.

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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