Genetic Testing
New No-Cost Genetic Testing Launched via mitoSHARE
As part of Genetic Testing Action Day, UMDF is proud to launch a new Patient-Enabled No-Cost Genetic Testing Program to help shorten the diagnostic journey for suspected mitochondrial disease patients.
For the first time, the testing will be offered on UMDF’s patient registry, mitoSHARE, enabling a seamless transition for genetic testing participants to receive curated results, connect their data to share with a clinician, participate in surveys and studies, and more.
The program is once again in partnership with Probably Genetic, which utilizes an online symptom assessment to determine testing eligibility.
The test – administered by Variantyx — 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.
Patients can find instructions on how to explore their eligibility in the Determing Your Eligibility section below. Requirements include that the patient reside in the USA, never had whole exome or whole genome sequencing, be without insurance (or without insurance that would cover costs for such tests) and demonstrate a high likelihood of a primary mitochondrial disease diagnosis based on information provided during the intake process.
This is the fourth variation of UMDF no-cost genetic testing offered. More than 600 patients have received results that have furthered their understanding of their diagnosis thanks to such programs.
DETERMINING YOUR ELIGIBILTY FOR UMDF NO-COST GENETIC TESTING
To get started, patients or caregivers should create a mitoSHARE account at umdf.org/mitoSHARE. If you already have a mitoSHARE account, jump to step 3.
- Create a mitoSHARE account. Enter First Name, Last Name, E-mail address, Mobile Phone, and Date of Birth to get started. Note only patient accounts are eligible for no-cost genetic testing, so if you’re a caregiver filling this out on behalf of a patient or suspected patient – please use the patient designation.
- Carefully review Terms of Service and Informed Consent. The Informed Consent Form describes the goals of the registry and how deidentified data is collected and used. You will need to review and agree to the terms.
- Once on platform, you should see a variety of ways you can get involved in research, including a Survey & Studies tab. Choose the “Genetic Testing Status” survey.
- Complete the survey to verify initial testing criteria are met.
- Assuming these standards are met, you’ll be provided a unique link to Probably Genetic to complete a diagnostic assessment. This link is exclusive to the patient and should not be shared. The assessment should take no more than 15-20 minutes.
- Based on the answers provided, the patient will either be offered a no-cost test or put on a wait list. If the patient qualifies, they will be sent a saliva or buccal swab kit at their home with instructions for collection and return.
- Once the completed swab is received by the lab, results can be expected in 6-8 weeks. You will be notified via email once the results are ready to be viewed on the “Documents” tab of your mitoSHARE account.
- Regardless of the testing outcome, you’ll have the ability to talk with a genetic counselor at no cost via Probably Genetic. Your test results will be automatically curated by mitoSHARE’s genetic counseling team, as well.
Should you have any questions, UMDF and Probably Genetic are here to help.
mitoSHARE or program related questions: Contact registry@umdf.org / (888) 900-6486
Testing intake or status questions: Contact hello@probablygenetic.com / 909-306-5857
“We know the diagnostic journey for a mitochondrial disease patient is often long and difficult. By offering a no-cost genetic testing program, UMDF aims to shorten and simplify the journey for our patient community.”
The journey to a correct diagnosis is one of the biggest challenges facing mitochondrial disease patients and families because many other conditions may have similar symptoms.
Shorten the Journey with a No-Cost Genetic Test
The UMDF no-cost genetic testing programs are collaborative initiatives to provide qualified candidates of all ages a complimentary genetic test. A genetic test is the quickest, most accurate way to confirm once and for all if you or a loved one has mitochondrial disease.
Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) are both methods used to analyze a person’s DNA, but they focus on different parts of it.
Whole Exome Sequencing (WES) looks at only the protein-coding regions of your nuclear DNA, called exons. These make up about 1-2% of your entire nuclear genome but contain most of the known disease-causing mutations. Sequencing of mitochondrial DNA is an optional add-on. WES is often used when doctors suspect a genetic condition but want a more cost-effective and targeted approach.
Whole Genome Sequencing (WGS), analyzes all of your DNA—including both coding and non-coding regions, and includes full sequencing of the mitochondrial DNA as well. This provides a complete picture of your genetic makeup and can help identify mutations in areas outside of the exons that might still affect health.
How They Differ from Other Clinical Genetic Tests:
Single Gene Testing: Focuses on just one gene to check for mutations linked to a specific condition.
Gene Panel Testing: Examines multiple genes at once, often used for conditions that can be caused by mutations in different genes.
Chromosomal Testing: Looks at large-scale changes in chromosomes, such as missing or extra pieces, which can cause genetic disorders.
Muscle biopsy, skin biopsy, mitochondrial function testing such as Electron Transport Chain analysis and routine biochemical testing (such as plasma amino acids, organic acids, lactate levels, etc.) are NOT genetic testing.