Definition

Variants in the G6PD gene (X chromosome) reduce the activity of glucose-6-phosphate dehydrogenase; since this enzyme provides the sole source of NADPH for red blood cells against oxidative stress, deficiency causes premature hemolysis. The most common findings are neonatal jaundice and acute hemolytic anemia triggered by infection, drugs (primaquine), or fava bean consumption.

Gene/region examined

G6PD - Exon 2, G6PD - Exon 3, G6PD - Exon 4, G6PD - Exon 5, G6PD - Exon 6, G6PD - Exon 7, G6PD - Exon 8, G6PD - Exon 9, G6PD - Exon 10, G6PD - Exon 11, G6PD - Exon 12, G6PD - Exon 13

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Inherited, X-linked (hemizygous involvement in males; variable expression in female carriers).

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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