Definition

The MEFV gene encodes the pyrin protein; pyrin normally suppresses inflammasome activation and IL-1β release. Pathogenic variants in MEFV lead to uncontrolled IL-1β activation, causing recurrent attacks of fever and inflammation of the serous membranes; attacks usually begin before age 20, last 12-72 hours, and present with abdominal pain, chest pain, arthritis and skin rash.

Gene/region examined

TNFRSF1A - Exon 1, TNFRSF1A - Exon 2, TNFRSF1A - Exon 3, TNFRSF1A - Exon 4, TNFRSF1A - Exon 5, TNFRSF1A - Exon 6, TNFRSF1A - Exon 7, TNFRSF1A - Exon 8, TNFRSF1A - Exon 9, TNFRSF1A - Exon 10

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal recessive (AR); a semi-dominant effect has been reported for some variants.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

Go to term →

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

Go to term →

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.

Go to term →

How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

Go to term →

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.

Go to term →