A genetics professional will review the results of the genetic testing with you. It is important to remember that the results of genetic testing may not provide a clear answer. This may be because some parts of the genome are more difficult to read, and some variants are difficult to understand.

Here are a few resources to help you understand genetic testing results:

Talking Glossary of Genetic Terms

This is a valuable resource from the National Human Genome Research Institute at the National Institute of Health (NIH) in the US. It contains over 250 commonly used genetic terms, including those you may see on a test report, with their definitions. Terms can be searched alphabetically.

Visit the Talking Glossary of Genetic Terms website

Genetics Home Reference

This helpful resource from the U.S. National Library of Medicine at the National Institute of Health (NIH) contains a glossary of genes. It describes each listed gene’s function and associated genetic disorders. The website also has a section for health conditions caused by genetic variation. A section titled “Help Me Understand Genetics” contains explanations of fundamental genetic concepts in a question-and-answer format.

Visit the Genetics Home Reference website

RareConnect

A safe, easy to use platform where rare disease patients, families and patient organizations can develop online communities and conversations across continents and languages. RareConnect partners with the world’s leading rare disease patient groups to offer global online communities allowing people to connect around issues which affect them while living with a rare disease.

Visit the RareConnect website

For additional resources, including videos, check out our Genetic Testing Resources