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Given the large number of genes analyzed via exome or genome sequencing, variants may be detected in genes that may be medically significant, but not associated with the primary reason for testing in a given patient.

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In rare cases, GeneDx may report an additional reportable finding in a gene not associated with the patient’s reported phenotype and that is not one of the secondary findings genes recommended by the ACMG. These reported findings are expected to be medically relevant and will typically be pediatric-onset conditions. When these findings are identified, our clinical team is available to discuss the finding in detail with the ordering provider. Note that adult-onset, neurodegenerative disorders will not be reported in presymptomatic patients.

Many conditions can have similar symptoms so your healthcare provider may have recommended a genetic test to try to identify an underlying cause for your health concerns. Because exome and genome testing look at over 20000 genes at once these tests may help your healthcare provider diagnose a specific disorder or develop a more effective care plan in a shorter amount of time.

The diagnostic rate is highest when a trio is submitted and analyzed, as the inclusion of parental data improves the ability to classify variants. The absence of parental data may lead to higher rates of variants of unknown significance that could otherwise be dismissed based on inheritance patterns.

1. Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.

Testing a person's DNA and then comparing it to two biologically related family members is called trio testing.

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Trio testing is valuable because it:

• increases the chance of finding the gene change causing the symptoms
• decreases the chance of unclear or uncertain findings

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That's because everyone has changes in their genes. Comparing the DNA of relatives makes it easier to figure out which genetic changes are causing your symptoms (and which are not).

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Samples from biological parents can provide the most information. However other blood-related family members may also be considered if both biological parents are unable to provide a sample.

By analyzing the entirety of an individual’s DNA, genome sequencing can enable the greatest chance of uncovering the underlying cause of a patient’s symptoms or condition. Please visit our genome sequencing page to learn about the benefits of clinical genome sequencing and visit our test catalog to learn more about ordering a GeneDx test.

Genetic testing analyzes DNA to help identify genetic changes that may contribute to rare and inherited conditions. Results can help guide diagnosis, care decisions, and treatment planning for patients and families.

Genetic testing looks at our genes which are the instructions that tell our bodies how to develop and function. Sometimes changes in our genes (also called genetic variants) cause our bodies to grow or develop differently than expected. Genetic testing may be able to find these gene changes. That knowledge can help determine:

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• how to best manage or treat a condition or prevent complications related to a genetic diagnosis
• what to expect for the future
• which additional resources and support may help

By analyzing the protein-coding regions of approximately 20,000 genes, exome sequencing can identify genetic changes that may be the underlying cause of a patient’s symptoms or condition.  

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Please visit the exome homepage to learn about the benefits of exome sequencing and visit our test catalog to learn more about GeneDx’s test.

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The exome is the portion of our DNA that tells our bodies how to make proteins which are important for a body to function properly. Exome testing looks at those protein-coding pieces of DNA to try to find the genetic change that may be responsible for differences in how your body functions or developed.

A person's genome is their entire set of genetic information called DNA which tells their body how to develop and function. Genome testing is the most comprehensive genetic test available since it looks at all of a person's DNA. This comprehensive view can enable the greatest chance of finding the genetic change that may be responsible for differences in how your body functions or developed.

GeneDx offers genetic testing for a wide range of rare and inherited conditions. Our testing includes whole exome sequencing, whole genome sequencing, trio testing, prenatal genetic testing, targeted testing, and other specialized tests designed to help identify genetic causes of disease and support more informed clinical care.

Genetic testing can help diagnose the genetic causes of many rare and inherited diseases and conditions, including neurodevelopmental disorders, epilepsy, movement disorders, metabolic conditions, cardiac conditions, autism spectrum disorder, developmental delay, intellectual disability, and other complex or unexplained symptoms. GeneDx specializes in exome and genome sequencing to help clinicians find answers for patients with suspected genetic conditions.

Genetic testing can deliver three types of results:

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• Positive or diagnostic means we found a gene change that's known to cause symptoms or a specific genetic disorder.
• Negative or non-diagnostic means there were no gene changes identified at the time that explain a health condition based on current knowledge. In this case your provider may order follow-up testing.
• Uncertain means we found a gene change but based on the available scientific evidence we cannot clearly say whether this is related to a health condition. In this case your provider might suggest additional evaluations or a future reanalysis of your genetic information.

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Genetic changes may also be identified that are unrelated to the reason your provider recommended testing known as secondary findings. This information is optional to receive and occurs in ~3% of people. We encourage you to discuss this option with your provider.

In addition to findings related to the patient’s symptoms, exome and genome sequencing sometimes identify genetic variants unrelated to the reason testing was ordered, called secondary findings.  

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The American College of Medical Genetics and Genomics (ACMG) has created a list of specific “secondary finding” genes known to be associated with health conditions for which medical screening and/or treatments are available. Most of these conditions can increase the chances of developing certain cancers or heart conditions, or change the way a person’s body breaks down, stores, and uses different substances (called metabolic conditions). Certain conditions, such as Alzheimer’s and Huntington’s disease, are not included.

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To help patients understand secondary findings, GeneDx has created this patient guide. It includes information on how to opt-in or opt-out of receiving secondary findings.

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Please contact the healthcare provider who ordered your GeneDx testing with questions related to your results. Your provider may refer you for genetic counseling services at GeneDx to help you understand your results and next steps.

Yes. Please call 888-729-1206 and ask to speak with a genetic counselor. You can also email Support@GeneDx.com to be put in touch with a GeneDx expert to address your questions, or Contact us through this form and our team will be in touch shortly.