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Genetic testing for rare diseases
Get answers, faster
Diagnose your symptoms and find treatment options
Finding a diagnosis is an important step in managing and treating rare disease. 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:
- confirm or explain a diagnosis
- understand the cause of unexplained symptoms
- identify treatment options, including clinical trials
Get a diagnostic test in two easy ways
Get a diagnostic test online
We can help you find a genetics provider in your area or connect you to a telemedicine provider.
Order through your healthcare provider
Talk to your healthcare provider about diagnostic genetic testing with Invitae. This letter can help start the conversation.
Testing for at-risk family members
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.
More than a test:
Built-in support network
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.
Your questions, answered
Our resource center offers:
- details on how the testing process works
- downloadable guides that explain specific genetic diseases
- an explanation of possible results and what they could mean for you
When you need more
Invitae Boosted Exome can provide answers for complicated or difficult-to-diagnose cases.
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:
- your healthcare provider suspects a genetic condition
- there are multiple genes that could be the cause of your (or your child’s) symptoms
- you (or your child) have a complicated medical history that affects many organs and/or body systems
- past genetic test results for any non-exome tests were normal
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).
