Finding a diagnosis is an important step in managing and treating rare diseases. But for many people it can take years: the average time it takes a patient to get a rare disease diagnosis is 3.9 years.
Genetic testing can help you reach a diagnosis, faster.
The benefits of genetic testing include:
We can help you find a genetics provider in your area or connect you to a telemedicine provider.
Talk to your healthcare provider about diagnostic genetic testing with Invitae. This letter can help start the conversation.
Identifying at-risk family members is one of the most important benefits of genetic testing. If you have a genetic variant, your immediate family members have up to a 50% chance of having the same variant. Other relatives may also be at risk.
Invitae is dedicated to ensuring that both you and your family understand your risk. If you receive a positive test result from Invitae, we can test your blood relatives for that same genetic variant under our family follow-up testing program.
You don’t have to figure it out alone. Genetics experts are available to guide you through the testing process, help you make sense of your results, and plan a path forward.
Our resource center offers:
Exome testing looks at the pieces of your DNA that provide instructions for making proteins (“exons”). Exome testing may be right for you (or your child) if:
This test is ordered through your (or your child’s) healthcare provider. Results are typically available in 6 to 8 weeks after you provide a blood or saliva sample.
1 As defined by the National Institute of Health (NIH).
2 Gandomi SK and Esplin ED. Rare Disease Diagnosis Obstacles: Patient Perspective and Physician Findings; Presented at the ACMG Annual Meeting, 2016 (Abstract #443).