Get answers with genetic testing for rare diseases Get answers with genetic testing for rare diseases

Genetic testing for rare diseases

Get answers, faster 

Rare diseases aren't rare
83% of physicians agree genetic testing is useful in finding a diagnosis

Diagnose your symptoms and find treatment options

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:

  • confirming or explain a diagnosis
  • understanding the cause of unexplained symptoms
  • identifying treatment options, including clinical trials

Get a diagnostic test in two easy ways

Video Thumbnail

Get a diagnostic test online

We can help you find a genetics provider in your area or connect you to a telemedicine provider.

Video Thumbnail

Order through your healthcare provider

Talk to your healthcare provider about diagnostic genetic testing with Invitae. This letter can help start the conversation.

Simple billing, no surprises


We’ll work directly with your insurance company so you don’t have to. Typically people pay between $0 and $100 out of pocket. Learn more.


Don’t have insurance? We offer $250 pricing and accept HSA/FSA payments. Learn more.

Get answers with genetic testing for rare diseases

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.  

Get answers with genetic testing for rare diseases

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.

Get answers with genetic testing for rare diseases

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).