Definition

Following the same principle, this test covers the separate confirmation, by Sanger sequencing, of variants detected in two distinct clinically relevant genomic regions (for example, two different variant positions in a compound heterozygous patient); this approach is used particularly in recessively inherited diseases where both alleles must be correctly confirmed.

Gene/region examined

Targeted Analysis

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Not applicable, does not carry an inheritance pattern; it is a general laboratory technique used for multi-region confirmation of both somatic and germline variants.

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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