Also known as: whole genome sequencing, WGS.
What is genome sequencing?
Whole genome sequencing is a complex laboratory technique that involves transcribing in a single process, all of the genes in a genome (which is all of a child’s genetic material). This technique (as opposed to examining each gene individually) is helpful in diagnosing difficult and rare clinical genetic conditions which may have been investigated by a variety of pediatric subspecialists.
What happens during the procedure?
Blood is drawn routinely from a vein which is sent to a laboratory for testing.
Is any special preparation needed?
No special preparation is needed for the test.
What are the risk factors?
Pain, bleeding, infection, bleeding and damage to surrounding organs and tissues are potential risks of blood being drawn.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: 8/23/2018 9:03:30 AM
From the Newsdesk
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.
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.