What is the goal of this UMDF no-cost genetic testing program?
There are still many people who have suspected mitochondrial disease who remain undiagnosed. The goal of this program is to facilitate the genetic diagnosis of patients clinically suspected of having a primary mitochondrial disease. 

What form of genetic testing is being provided in this program?
The offered test from the diagnostic lab associated with Probably Genetic is based on a whole genome backbone and will return results for all known pathogenic nuclear genes associated with mitochondrial disease as well as full mitochondrial DNA sequencing.

Is there any cost associated with this program?
No, there is no cost to participating clinicians or their patients. 

Who can request this genetic test?
Any U.S.-based healthcare provider with a valid National Provider Identifier that has a patient(s) clinically suspected of primary mitochondrial disease can order this test.

Who is eligible?
The patient and ordering clinician must meet the following requirements:

• Ordering clinician and patient must be based in the USA.
• Patient must have never had whole exome or whole genome sequencing.
• Patient must be without insurance, or without insurance that would cover costs for such tests.
• Patient must demonstrate a high likelihood of a primary mitochondrial disease diagnosis based on information provided during the intake process.

Can patients submit a test request?
No. A clinician must initiate this program. We suggest you talk to your doctor about a referral. Probably Genetic also sometimes offers patient-initiated testing, which you can access on their website. 

How will patient information be used?
Your de-identified data — information that cannot be reasonably linked to a specific individual — may be used in ways that help advance medical care and the clinical practice of genetics. You can read more about the steps Probably Genetic takes to ensure your privacy here.

 What happens after I have completed the Symptom Checker?
If it’s determined the patient qualifies, they will be sent a saliva kit at their home with instructions for collection and return. Results can be expected in 6-8 weeks, along with a shareable report link.  

Some of the questions have “None of these” highlighted red. Why is this option formatted differently than the other options available for selection?
Probably Genetic wanted to make sure that “None of these” was distinct in comparison to the other options available for selection. Just because it is highlighted red, does not mean it is the right response for you. It is highlighted red to stand out and make the reader aware that you are actively choosing that the “None of these” options apply to you. It is important that you read all options carefully and select only the one(s) that best apply to you.

I made a mistake in selecting a response, can I go back and edit a response?
Yes. You can edit any response you would like along the way. However, once you click the Submit button at the end of the survey, all responses are recorded as final. 

Can I track the status of my request?
Yes. You can track the status of your test on your Probably Genetic Dashboard. In addition to the dashboard, Probably Genetic will also be sending you status updates via email. 

I qualified for a free genetic test, what happens next?
Probably Genetic will send you a collection kit to your provided address. The collection kit will consist of a saliva kit and specific instructions on how to collect, store, and return the samples. Postage will be provided. 

I returned my sample – when can I expect to receive results?
The Probably Genetic dashboard is the best way to follow the status of your testing. Patients should expect that the entire process may require several months before results are ready to be shared. Program participants should not contact UMDF regarding the status of testing as UMDF does not know who has applied or been selected to receive no-cost genetic testing. Instead, program participants should contact Probably Genetic at 844-778-7988 or contact@probablygenetic.com. 

Who gets my results?
Only you get results. Probably Genetic provides a shareable link you can forward to those you think should have access. 

Will I have someone to help translate my results?
When the results are delivered, you’ll be offered the opportunity to discuss the results with a genetic counselor at no additional cost. 

Who can I contact if I have a question about the test provided or a specific order?
Please reach out to contact@probablygenetic.com. UMDF is not able to answer such inquiries. 

Who can I contact if I have general questions about the program?
You may contact UMDF for general inquiries about the program via diagnosis@umdf.org.