Definition

The MYL2 (regulatory light chain) and MYL3 (essential light chain) genes encode light chain proteins that bind to the myosin head region and regulate the contraction kinetics of cardiac muscle. Variants in these genes disrupt sarcomere mechanics, leading to asymmetric septal hypertrophy or, rarely, apical hypertrophic cardiomyopathy, and in some families, dilated cardiomyopathy.

Gene/region examined

TNNC1 - Full Gene

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Inherited, autosomal dominant.

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 →