Rare Genetic Disorders

Rare, but not alone

Individually rare, but collectively common, genetic disorders affect millions of Americans. These conditions are almost always complex and affect many parts of the body. Often, they are due to genetic changes that alter how our body grows, develops, or functions. At Variantyx, we’re experts in diagnosing rare genetic disorders using our innovative analysis software and advanced sequencing technology.

Rare genetic disorders facts1:

More than 25 million Americans total have at least one rare disorder.
Each disorder affects under 200,000 people in the United States.
There are nearly 7,000 rare disorders.

Whole genome sequencing

Because we use whole genome sequencing for every test, we can find all major types of genetic changes at the same time. Testing can be done on only the patient, the patient and one biological parent (duo), or the patient and both biological parents (trio). Testing the patient and one or both biological parents provides the best chance at finding a genetic cause for a person’s condition. 

Our single-test genome sequencing method provides an in-depth analysis from one sample to help:

Shorten the total time to find a diagnosis.

Understand the condition better.

Inform treatment and management decisions.

Reduce the total number of genetic tests a person needs.

We know a diagnosis of a rare disorder can be life-changing. It may lead to different treatments or therapies. It can help families understand their history. It may help you understand your symptoms or those of your loved one. It may even be life-saving.

Learn more about what we offer:

Testing for rare genetic disorders

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Patient resources and FAQs

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Getting started

See our discussion guide to help start a conversation with your healthcare provider about genetic testing.

Discussion Guide