The UMDF Genetic Testing Project

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 Genetic Testing Project is a collaborative initiative 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:

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Access to better medical care

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Starting the correct treatments and therapies

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Participating in clinical trials

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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.

“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

How Does the Process Work?

Every step is facilitated online with an easy-to-use testing kit delivered right to your doorstep. No doctor visits required! Here’s how it works:

Step 1

Create a mitoSHARE patient registry account here.

Step 2

Complete a brief eligibility survey.

Step 3

Answer a few questions using our online symptom checker, and if qualified, complete an online intake questionnaire.

Step 4

Receive a testing kit if the information provided identifies you as a candidate.

Step 5

Return testing kit and a genetic counselor will contact you to discuss results.

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.

Who Qualifies?

Our mission is to identify and diagnose as many patients as possible through The UMDF Genetic Testing Project, although funds are limited during the pilot phase. As a starting point, candidates should meet the following criteria:

A genetic test has never been conducted. This may be due to:

    • Cost
    • Health insurance
    • Access to tests

Do you think you might be a good candidate for The UMDF Genetic Testing Project? Get started now by joining our patient registry.

Working Together to

Fast-Track a Diagnosis

The UMDF Genetic Testing Project is possible due to the generous financial support of Zogenix in collaboration with GeneDx and Probably Genetic.

“Genetic tests to identify specific mitochondrial diseases are essential to timely diagnosis and care, and are often required for patients to enter clinical trials. At Zogenix, we are proud to partner with UMDF to improve diagnosis and treatment of mitochondrial diseases as part of our commitment to developing therapies with the potential to transform the lives of patients and families with rare diseases. Together we can bring hope and support to patients and families impacted by rare diseases.”

Stacey Harte
Vice President, Mitochondrial Disease Program Lead

Participate in the UMDF Genetic Testing Project

Confirm once and for all if you or a loved one has mitochondrial disease.