Genetic Testing
New No-Cost Genetic Testing Coming Soon
UMDF is preparing to launch a new no-cost genetic testing program in the summer of 2025.
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“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.