Free genetic testing for mitochondrial disease

United Mitochondrial Disease Foundation & Probably Genetic have partnered to bring no-cost genetic testing and genetic counseling to patients with confirmed eligibility.

CHECK ELIGIBILITY NOW

The testing offered

A clinical-grade DNA test delivered right to your door. All it takes is a bit of saliva. A genetic counseling appointment to review results is also included.

  • Whole Genome Sequencing platform that analyzes entire mitochondrial genome and 300+ nuclear genes.
  • CLIA-Certified & CAP-Accredited Lab
  • HIPAA-compliant to protect your data

How the testing program works

1.

Take the short assessment and explain your symptoms to see if you’re eligible. We will also confirm personal details and your provider information for reference.

2.

If your application is approved, you'll receive an email update and we'll send a kit right to your door. Collect some saliva and send it back in the pre-paid box.

3.

Receive your results, it's that simple. They will be ready in 6-8 weeks from the time you send us your sample, and you'll have access to a free genetic counseling appointment to discuss the report.

Eligibility for the testing program

Mitochondrial diseases impact people of all ages, and can be found in children and in adults. Our no-cost testing program applies to people in the US with symptoms suggestive of a genetic mitochondrial disease. Patients who qualify may be given a free genetic test on a case by case basis after review by our experts.

To qualify:

    • You must live in the United States.
    • You must be experiencing mitochondrial disease symptoms, and not already received a genetic diagnosis.
    • You have completed the chat-based symptom and health history assessment.

Think you may qualify?

TAKE SYMPTOM ASSESSMENT

What is mitochondrial disease?

Mitochondrial diseases occur when mitochondria, the powerhouses of your cells, fail to produce enough energy for the body to function properly. Mitochondrial disease can affect all parts of the body. Especially those that require a substantial amount of energy to function.

Mitochondrial disease can affect people at any age and symptoms may vary. Genetic testing is a critical component of diagnosis which is why United Mitochondrial Disease Foundation and Probably Genetic have partnered to bring free testing to patients.

Mitochondrial disease symptoms

The parts of your body that need the most energy – heart, brain, muscles – are most affected by mitochondrial disease. An affected individual may exhibit a spectrum of symptoms, including:

    • Low muscle tone
    • Muscle weakness
    • Droopy eyelids (ptosis)
    • Breathing difficulties
    • Difficulty swallowing
    • Cognitive decline
    • Loss of motor skills
    • Delayed development of motor skills
    • Delayed speech or language development
    • Seizures or epilepsy
    • Learning disability or intellectual disability
    • Difficulty walking
    • Hearing problems
    • Chronic fatigue
    • Elevated creatine kinase (CK) levels
    • Increased lactate in the blood (lactic acidosis)
    • Abnormal muscle biopsy (ragged red fibers)
    • Elevated liver enzymes, fatty liver or enlarged liver.

Facts about mitochondrial disease

1.

Approximately 1 in 5,000 people have a mitochondrial disease.

2.

Every 30 minutes a child is born that will develop mitochondrial disease.

3.

Ongoing research is needed to improve treatment options for mitochondrial diseases; we're partnered with researchers to help with that.

Hear from other patients

We have already helped many families just like yours!

Sound familiar?
APPLY NOW

Why is this test free?

The goal of this testing program is to help more people with mitochondrial diseases find out what’s causing their symptoms and help researchers learn more about mitochondrial disease.

What you should know about the program and your data
1.
Probably Genetic is conducting this program and researchers may provide financial support.
2.
Genetic testing and genetic counseling is available only in the United States.
3.
At no time will third parties or commercial organizations receive information that can identify you.
4.
We will never share identifiable personal, contact, or medical information with any outside party.
5.
Third parties or commercial organizations may receive aggregate de-identified patient data from this program.
6.
Third parties or commercial organizations may receive the contact information of your doctors that you provide as part of the program.

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