UMDF Genetic Testing for Suspected Mitochondrial Disease

Clinicians, please note this program is currently open to providers in the Mitochondrial Care Network. Should you wish to be notified when this program opens to clinicians outside the network, please click here.

About this Program

Welcome to the UMDF Genetic Testing for Suspected Mitochondrial Disease, which is financially supported by Reneo Pharmaceuticals. This website provides easy instructions to ensure your genetic test request is correctly processed. Your can read our brochure for more details. 


This program is designed to provide clinicians an opportunity to order no-cost genetic testing for patients who have a suspected PMD based on expert evaluation. Our aim is to facilitate a diagnosis to aid in optimal clinical care and potential participation in clinical trials.

Eligibility Criteria:

  • Ordering clinician must be based in the USA
  • Patient must have a clinical presentation consistent with PMD
  • Patient never had whole exome or whole genome sequencing.
  • Patients without insurance, or insurance that does not cover costs for such tests.

We ask that you ensure all insurance options have been exhausted prior to submitting a test request. Since many other disorders have clinical symptoms that overlap with PMD, and testing capacity is limited, please use discretion before ordering.


Submission Directions

  1. Visit the MNG site to download the TRF and order testing kits. You can order kits for multiple patients at one time — up to 5 at once.
  2.  Fully complete all sections of the TRF form. Print a copy and complete signatures from physician and patient.
  3. Patient must read and sign the consent.
  4. Collect sample and place sample, completed TRF and patient consent in the return postage paid test kit box.
  5. Test results will be provided in approximately 30 days.


For questions regarding the program:
For questions about processing:

Remember, UMDF is here you support you and your patient.  
You can download a printable UMDF services brochure that includes resources to help them find applicable clinical trials, attend a support meeting, find educational materials, and more.

Frequently Asked Questions

What is the purpose of this UMDF-sponsored genetic testing program?

The goal of this program is to facilitate the genetic diagnosis of patients clinically suspected of having a primary mitochondrial disease

What form of genetic testing is being provided in this program?

UMDF is partnering with MNG Labs to provide no-cost access to MNG Labs’ Comprehensive Cellular Energetics Defects test, which includes next generation sequencing of a panel of 320 known nuclear genes associated with mitochondrial disorders as well as full mtDNA sequencing and Copy Number Analysis.

Who may submit a test requisition form?

Currently the program is open only to healthcare providers from sites in the Mitochondrial Care Network.
Click here to sign up to receive an email when this program opens to the largrer clinician community.

I am not a healthcare provider from a Mitochondrial Care Network site - can I still participate in the program?

No, but the program intends to broaden its scope at a future yet-to-be determined time. Click here to sign up to receive an email when this program opens to the largrer clinician community.

Can patients submit a test request?

 No, this program is restricted to clinicians. If you are a patient, please inform your healthcare provider about the program. 

Who can I contact if I have general questions about the program?

You may contact UMDF for general inquiries about the program via

Who can I contact if I have a question about the test provided or a specific order?

MNG Labs is our diagnostic lab partner for this program and may be reached at UMDF is not able to answer such inquiries.

How will clinician information be used?

Participating clinicians must attest on the Test Requisition Form to their willingness to share contact information with UMDF and program sponsors so that relevant mitochondrial disease information may be shared in the future.

Is there any cost associated with this program?

No, there is no cost to participating clinicians or their patients.

How will patient information be used?

Participating patients must attest to having the program explained to them by their clinician and to the sharing of de-identified clinical symptom and genomic date with UMDF for use in advancing mitochondrial disease research.

Who is eligible to participate in this program?

In order to participate, both the clinician as well as the patient must be based in the United States. The patient must have a clinical presentation that is consistent with primary mitochondrial disease and not previously had whole exome or whole genome sequencing. Lastly, all other options for paying for the genetic test should be exhausted prior to submitting a test request.

How long will it take to receive results after submitting a test request?

MNG Labs estimates a 4 week turnaround time for test requests once all the required documents and patient sample are received.

Financially supported by Reneo Pharma