Definition

Celiac disease is an autoimmune small intestinal enteropathy that develops in genetically predisposed individuals in response to dietary gluten; the HLA-DQ2 (DQA1*05-DQB1*02) or HLA-DQ8 (DQA1*03-DQB1*0302) haplotypes are present in nearly all patients. While approximately 30-40% of the general population carries these alleles, the prevalence of celiac disease is approximately 1%; the test is primarily used for exclusion, given its high negative predictive value.

Gene/region examined

HLA DQ2, DQ8

Method

RT-PCR

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Inherited predisposition (the HLA haplotype is inherited); the disease itself is a multifactorial/autoimmune condition triggered by environmental factors (gluten).

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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