The National Institutes of Health estimates approximately 25 million Americans suffer from a rare (and often complex) genetic condition. But they may not know for sure.
If you think you may have one, it often means you could face a long diagnostic journey. One that may take years to get a diagnosis. This can be frustrating for you and your family.
It also could mean that you miss opportunities for a more timely diagnosis. Quicker diagnosis means you can get valuable information about your outlook (prognosis) and start treatment sooner. Not to mention learning how to manage your condition and understanding the risk of passing along in the family (recurrence risk).
Cleveland Clinic’s Undiagnosed Disease Clinic (UDC) wants to change that. We now make the most of the latest technology to genetic conditions by using whole genome sequencing (WGS).
What is Whole Genome Sequencing (WGS)?
Whole genome sequencing (WGS) is a comprehensive test that allows us to quickly learn more about your genetic makeup (DNA) by checking it all at once. This can speed up diagnosing different genetic conditions. And it can also help predict the risk of developing or passing along the condition.
This powerful tool allows our expert providers to:
- Pinpoint a clinical diagnosis.
- Identify the gene(s) in question so we can take steps to treat and manage the condition as best as we can.
- Learn more about other family members’ risks for also having or passing along the condition.
Scheduling an Appointment
Before you can make an appointment, you’ll need ask your regular healthcare provider for a referral. If you’re not a Cleveland Clinic patient, please have your physician complete a referral form and fax it to 216.445.6935. Learn how to prepare for your appointment.
- Allison Schreiber, MS, LGC
- Alexandria Haseley, MS, LGC
- Sarah Mazzola, MS, LGC
- Tyler Tribble, MS, LGC
Who Should Be Seen
Who should get genetic counseling and testing
At Cleveland Clinic’s Undiagnosed Disease Clinic (UDC), our team is able to help you if you meet at least ONE of the following requirements:
- Have more than one congenital (born with it) condition with an unknown cause and previous test results that were negative or not significant enough (unrevealing) to diagnose anything.
- Have symptoms that match up with more than one condition or affect more than one body system and negative or unrevealing results from blood, urine or imaging tests.
- Been diagnosed with a disease affecting more than one body system with an unknown cause and negative or unrevealing test results for a specific condition.
What to Expect
Before your visit
You’ll need a referral from your regular healthcare provider before you can request an appointment. If you aren’t a Cleveland Clinic patient, please have your physician complete a referral form and fax to 216.445.6935.
Collect Your Family Health History
To make the most of your visit, it’s important to bring family health history information to your first appointment.
During your visit
We offer expert, personalized genetic counseling and WGS testing for you and your family. Our team makes sure you know all you can about this suspected disorder and how to manage it should testing show you have it.
During your visit, you’ll meet with a genetic counselor and geneticist (gene specialist). You’ll have a physical exam so we can look for signs of the genetic condition in question (phenotyping). And you may also meet with other Cleveland Clinic providers during your visit, depending on your medical needs. We’ll also collect whole genome sequencing (WGS) samples and send them to the lab for testing.
Following your visit
Our genetic team will go over your results with you when they get them. It can take anywhere between one to four months to get results back from the lab. We are also glad to reach out to your healthcare providers, as needed.
Cost & Insurance
Genetic counseling and testing are billed as two separate services.
We do not charge for genetic counseling visits. Please note this policy is subject to change. For information about the cost of genetic counseling visits, contact us at 216.636.1768.
Specialist provider visits
Most insurance companies will cover an in-person specialist evaluation with a referral from your primary care provider. Out-of-pocket costs will vary depending on your specific plan coverage (e.g., deductibles, co-pays, etc.).
Whole genome Sequencing (WGS) testing: Some labs will check with your insurance provider regarding WGS coverage and will update you if the request is denied.
You may be concerned that your genetic information could be used against you in health coverage, hiring and other situations. To learn about your patient rights and protections in place to prevent genetic discrimination, read our article on the Genetic Information Nondiscrimination Act (GINA).
To learn more about billing options and financial assistance, review our billing and insurance information.