Definition

The TPM1 gene encodes alpha-tropomyosin, the building block of the thin filament in cardiac and skeletal muscle, which works with the troponin complex on the actin filament to provide calcium control of contraction. Missense variants disrupt the sarcomere's force generation and can lead to hypertrophic or dilated cardiomyopathy; TPM1 accounts for ~1-3% of all hypertrophic cardiomyopathy cases.

Gene/region examined

TPM1 - Full Gene

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Inherited, autosomal dominant (with variable penetrance and expression).

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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