Genetic Testing

UMDF No-Cost Genetic Testing Opportunities

New No-Cost Genetic Testing Coming Soon

UMDF is preparing to launch a new no-cost genetic testing program in the summer of 2025.

Use the below opt-in to ensure you’re notified when the program launches.

Supported in part by an unrestricted grant from UCB. 

UCB Logo

 

“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.”

Philip Yeske, PhD  • Science & Alliance Officer at UMDF
Uncovering a

Mitochondrial Disease Diagnosis

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.

There are many benefits to having a confirmed genetic diagnosis of mitochondrial disease, including:
^
Access to better medical care
^
Starting the correct treatments and therapies
^
Participating in clinical trials
^
The comfort of knowing the precise nature of your disease
It is estimated that more than half of all mitochondrial disease patients don’t have a genetic diagnosis.
Learn More About

Genome Sequencing

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.

Did you know? A confirmed genetic diagnosis is typically required in order to participate in clinical trials, and without patients, clinical trials are delayed and progress toward treatments for mitochondrial disease is stalled.