Definition

The BRAF gene encodes a serine/threonine kinase located immediately downstream of RAS in the RAS-MAPK signaling pathway; germline BRAF mutations lead to a phenotypic continuum encompassing Noonan syndrome, cardiofaciocutaneous (CFC) syndrome, and LEOPARD syndrome. BRAF variants are responsible for ~75% of CFC syndrome cases; these three syndromes are considered different phenotypic ends of the same RAS-MAPK pathway disorder.

Gene/region examined

BRAF - Exon 6, BRAF - Exon 11, BRAF - Exon 12, BRAF - Exon 13, BRAF - Exon 14, BRAF - Exon 15, BRAF - Exon 16

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant (mostly de novo).

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 →