Definition

The NOG gene, as an antagonist of bone morphogenetic protein (BMP) signaling, plays a role in the regulation of joint formation and causes multiple synostosis syndrome, characterized by fusion of the proximal interphalangeal, carpal-tarsal, and humeroradial joints. In the literature, the NOG gene is classically matched with syndrome type 1 (SYNS1); it is recommended that the laboratory panel nomenclature for the 'type 3' designation be verified separately (in some classifications, SYNS3 is associated with a different gene, FGF9).

Gene/region examined

FGF9 - Exon 1, FGF9 - Exon 2, FGF9 - Exon 3

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant.

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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