Definition

WGS sequences the entire coding and non-coding regions of the genome and can detect single nucleotide variants, indels, structural variants, CNVs, repeat expansions, and mitochondrial variants in a single test. In families without a diagnosis after exome sequencing, WGS has provided an additional ~8% diagnostic yield.

Method

Next Generation Sequencing, CNV Analysis

Accepted sample types

EDTA Blood

Description

The entire genome is mapped along with CNVs. All exon and intron regions are analyzed. This test is applied to patients with a negative WES result or for the most detailed single investigation of genetic diseases of unknown cause. Whole genome sequencing includes CNV analyses but does not include the mitochondrial genome.

Inheritance

Studied in a germline context, this is a test in which the entire genome is analyzed for diagnosis of hereditary/congenital disease; mitochondrial (maternal inheritance) variants can also be detected in the same analysis.

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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