Many conditions can have similar symptoms but different causes, some of which could be genetic. Exome and genome testing look at over 20,000 genes at once, which could improve the chances of finding an answer.
That could help your doctor:
Changes in our genes (called genetic variants) can cause our bodies to grow or develop differently than expected. Exome and genome testing offer the most comprehensive ways to find those changes.
Looks for genetic changes in the portion of a person’s DNA that tells the body how to make proteins. The majority of genetic conditions are caused by changes that can be identified with exome testing.
Looks for genetic changes across all of a person’s DNA. Your healthcare provider can help determine if you (or your child) would benefit from this more comprehensive test.
The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome as a first-tier test for individuals with developmental delay, intellectual disability, and congenital anomalies.1
The National Society of Genetic Counselors (NSGC) recommends exome or genome for all individuals with unexplained epilepsy. This guideline is endorsed by the American Epilepsy Society (AES).2
Is your child experiencing any symptoms on this checklist? If so, you may want to talk with your healthcare provider about exome or genome testing.
“Carlotta was undiagnosed for 18 months until we were finally able to access whole exome sequencing to identify the underlying cause of her issues: PIGN-CDG. While it doesn’t necessarily change her immediate prognosis, it does change what the long-term prognosis could be. We wouldn’t have options if we didn’t understand what exactly it was that we were dealing with.”—Andrea
“My youngest child, Estella, was diagnosed at eight months old with an ultra-rare neurological disease called alternating hemiplegia of childhood. The power of a genetic diagnosis brought more than answers to my family; it brought a sliver of hope and potential for the future.”—Lacey
DNA is the cookbook that tells our bodies how to develop and function.
Chromosomes represent the chapters, and genes are the individual recipes in the cookbook that tell our bodies how to make proteins.
Like the ingredients in a recipe, proteins are the building blocks that make our body work. They make up our muscles, skin, hormones, and many other chemicals that allow our bodies to function.
Sometimes, changes in our genes (also called genetic variants or mutations) can affect a protein’s ability to work correctly, causing our bodies to grow or develop differently than expected. Genetic testing may be able to find these gene changes.
References: 1. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646. 2. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242
