Definition

The F8 gene encodes the production of factor VIII protein, a cofactor required in the blood clotting process. F8 variants lead to deficient or nonfunctional production of factor VIII; disease severity forms a spectrum, with spontaneous bleeding seen in the severe form, while in the mild/moderate form bleeding usually occurs after injury. Hemophilia A is the most common type of hemophilia.

Gene/region examined

F8 - Whole Gene

Method

Next-Generation Sequencing, CNV Analysis

Accepted sample types

EDTA Blood

Inheritance

X-linked recessive, in males a single defective copy is sufficient to cause disease; in females a variant is generally required in both copies, although some carrier females may also show symptoms.

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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