Definition

Pathogenic variants in the SERPING1 gene impair the production (type I, 85%) or function (type II, 15%) of C1 esterase inhibitor (C1-INH). C1-INH deficiency leads to bradykinin-mediated increased vascular permeability; recurrent deep edema episodes affecting the extremities, gastrointestinal tract, and face are seen (estimated prevalence 1 in 50,000).

Gene/region examined

SERPING1 - Exon 1, SERPING1 - Exon 2, SERPING1 - Exon 3, SERPING1 - Exon 4, SERPING1 - Exon 5, SERPING1 - Exon 6, SERPING1 - Exon 7, SERPING1 - Exon 8

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Inherited, autosomal dominant.

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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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