What is an exonic sequence?
An exon is the portion of a gene that codes for amino acids. In the cells of plants and animals, most gene sequences are broken up by one or more DNA sequences called introns.
What does exome sequencing test for?
ExomeSeq is a test that looks at most of the genes. This test may be useful for patients whose medical and family histories suggest a genetic cause for their signs and symptoms. Most patients who have whole exome sequencing (WES) have had other genetic testing that did not find a genetic cause of their condition.
How much does whole exome sequencing cost?
Whole exome sequencing costs range from $400 to $1,500, plus extra charges for analyzing the results. For insurance company Discovery, exome sequencing will be offered through a behavioral wellness program that provides clients with tools and incentives to make lifestyle changes to help them stay healthy.
What is an exon DNA?
Exons are coding sections of an RNA transcript, or the DNA encoding it, that are translated into protein. Exons can be separated by intervening sections of DNA that do not code for proteins, known as introns. Splicing produces a mature messenger RNA molecule that is then translated into a protein. …
Where is exonic splicing enhancer?
These are called exonic splicing enhancers (ESEs), intronic splicing enhancers, exonic splicing silencers (ESSs) or intronic splicing silencers (ISSs), and can be located at any position along the pre-mRNA (Fig. 3).
What do exonic splicing enhancers do?
In molecular biology, an exonic splicing enhancer (ESE) is a DNA sequence motif consisting of 6 bases within an exon that directs, or enhances, accurate splicing of heterogeneous nuclear RNA (hnRNA) or pre-mRNA into messenger RNA (mRNA).
What diseases can whole exome sequencing detect?
Research has shown that exome sequencing could detect genetic mutations related to birth defects and developmental delays. So, patients who have a family history of disease or are searching for a diagnosis to explain symptoms may be able to avoid unnecessary diagnostic tests by undergoing exome sequencing.
Is exome sequencing cost effective?
Whole-exome sequencing was most cost-effective when applied at initial presentation to tertiary care compared with first clinical genetics assessment and the standard diagnostic pathway.
Is 5 UTR an exon?
In protein-coding genes, the exons include both the protein-coding sequence and the 5′- and 3′-untranslated regions (UTR).