Definition

The HLA-B*51 variant of the HLA-B gene increases the risk of Behçet disease approximately 6-fold, although the mechanism is not fully understood; this variant is carried by between one third and two thirds of patients. The disease is characterized by widespread vasculitis of the vessel wall; painful oral/genital ulcers, skin lesions, uveitis and joint swelling are seen.

Gene/region examined

HLAB51, HLAB52

Method

RT-PCR

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Complex/multifactorial, with no clear Mendelian inheritance pattern; most cases are sporadic, and familial clustering is seen in a subset.

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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