Genetic Testing
New No-Cost Genetic Testing
UMDF is proud to offer a Patient-Enabled No-Cost Genetic Testing Program to help shorten the diagnostic journey for suspected mitochondrial disease patients.
The program is once again in partnership with Probably Genetic, which utilizes an online symptom assessment to determine testing eligibility. The test utilizes a whole genome sequencing (WGS) platform, which includes mitochondrial DNA sequencing, and will return results for all known pathogenic and likely pathogenic variants, as well as variants of uncertain significance (VUS) associated with the patient’s reported symptoms.
Patients can find instructions on how to explore their eligibility in the Determining 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 fifth variation of UMDF no-cost genetic testing offered. More than 750 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
- Visit’s Probably Genetic’s intake portal and provide contact information to create your account.
- Once the account is created, move forward with the diagnostic assessment. 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.
- Regardless of the testing outcome, you’ll have the ability to talk with a genetic counselor at no cost via Probably Genetic.
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.