Definition

The NOTCH3 gene encodes the Notch3 receptor, which is important for the function and survival of vascular smooth muscle cells. Mutations cause apoptosis of vascular smooth muscle cells and progressive damage to cerebral vessels. Recurrent strokes, migraine with aura, seizures, progressive cognitive decline and characteristic white matter changes are seen.

Gene/region examined

NOTCH3 - Exon 3, NOTCH3 - Exon 4, NOTCH3 - Exon 11, NOTCH3 - Exon 18 NOTCH3 - Exon 19

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant (AD).

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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