Exome Sequencing

Also known as: whole exome sequencing, WES.

What is exome sequencing?

The exome is that part of a child’s whole DNA/genome (the genetic inherited material of an organism) that codes (gives instructions) for the production of proteins. Exome sequencing is a complex laboratory test that involves transcribing all (as opposed to analyzing single genes) of the protein-coding genes in the child’s genome to identify novel disease genes, genetic disorders and/or to confirm disease causing protein variants, without the cost of whole genome sequencing. This technique can be used to determine the genetic cause of many rare genetic disorders that are present at birth.

What happens during the procedure?

A routine sample of blood is drawn from a vein of the child (sometimes cells from other tissues like the lining of the cheek or skin cells, may be used, and sometimes from both parents and/or sibling) and sent to the laboratory for testing.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Pain, bleeding, infection, and damage to surrounding organs and tissues are potential risks from blood drawing.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 8/31/2018 8:44:35 AM

From the Newsdesk

Nicklaus Children's Hospital to offer new rapid genetic test
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Research Study: How your child's genetic makeup can impact the way he or she responds to certain medications
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.