Definition

Clinical Exome Sequencing (CES) is an NGS application that targets the protein-coding region of the genome for genes known to be associated with disease (typically 5,000-7,000 genes); it is used in patients suspected of having a rare Mendelian disease. In large cohort studies, the overall diagnostic yield has been reported as 31.8%.

Method

Next-Generation Sequencing

Accepted sample types

EDTA Blood

Description

Examines more than 4,800 gene regions, custom gene panel analysis is performed. Recommended for investigating diseases of unknown cause, diseases with many subtypes, and conditions involving multiple/large disease-associated genes.

Inheritance

Studied in a germline context, an analysis performed on blood DNA for the diagnosis of hereditary/congenital disease.

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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