Definition

CYP2D6 plays a role in the metabolism of approximately 25% of drugs, including antidepressants, antipsychotics, opioids (codeine, tramadol) and tamoxifen; because of extensive gene copy number variation (CNV), phenotypic variability (poor, intermediate, rapid, ultrarapid metabolizer) is large. Codeine leads to excessive morphine accumulation in ultrarapid metabolizers and to inadequate analgesia in poor metabolizers.

Gene/region examined

CYP2C19, CYP2D61, CYP2D62, CYP2D63, CYP2D64, CYP2D66, CYP2D67, CYP2D68, CYP2D69, CYP2D610, CYP2D611, CYP2D612, CYP2D614, CYP2D617, CYP2D629, CYP2D639, CYP2D641

Method

Mini Sequencing

Accepted sample types

Peripheral blood (EDTA)

Inheritance

Germline/inherited.

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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