UMDF Genetic Testing for Suspected Mitochondrial Disease Program

Thank you for your interest in participating in the United Mitochondrial Disease Foundation’s (UMDF) Pilot No-cost Genetic Testing Program for Suspected Mitochondrial Disease in partnership with MNG Laboratories. The program will end on January 31, 2024.

As of January 5, 2024, no new test kits can be ordered. Any outstanding test kits for this program must be received by MNG Laboratories along with a fully completed test request form by January 31, 2024 in order to be processed.

To see what other UMDF genetic testing options exist, please visit our Genetic Testing landing page. 

For general questions regarding the program, email diagnosis@umdf.org.
For specific questions about order processing and existing test orders, email mngquickresponse@labcorp.com.


About this Program

Welcome to the UMDF Genetic Testing for Suspected Mitochondrial Disease Program, which is financially supported by Reneo Pharmaceuticals. This new, no cost genetic testing program is designed to aid clinicians in obtaining a molecular diagnosis for patients clinically suspected of having a primary mitochondrial disease (PMD). The testing program will run through MNG Laboratories and utilize their “Comprehensive Cellular Energetics Defects (NGS Panel and Copy Number Analysis + mtDNA)” test. This test utilizes 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.

This website provides easy instructions to ensure your genetic test request is correctly processed. You can read our brochure for more details. 

Eligibility

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

Eligibility Criteria:

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

IMPORTANT: 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

MNG Labs Test Request Form & Test Kit Ordering
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  1. Visit the MNG site to download the TRF and order testing kits. MNG offers two options for sample collection, either Blood Genetic Collection Kit or Buccal Swab Genetic Collection Kit. You may use either sample type when submitting an order. PLEASE NOTE: Only one test ki of each sample type can be ordered at a time. Due to supply chain issues, please allow a 8-10 days for kit arrival via FedEx Ground. TRF can be filled out digitally, but needs to be printed for patient signature. Kits cannot be shipped directly to patients. 
  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 4 to 6 weeks. We would encourage you to allow at least 6 weeks for patient follow-up.

Before you send checklist
All of the following are encouraged to be included with test orders:
→ All specimens that will be analyzed
→ Completed Clinical Information
→ Informed Consent for Genetic Testing shared with patient and attestation signed (page 1)

Failure to follow the directions above, including returning incomplete forms, may delay your test request and/or potentially lead to cancellation of the order.

 

Assistance

For general questions regarding the program: diagnosis@umdf.org
For specific questions about order processing: mngquickresponse@labcorp.com

Remember, UMDF is here you support you and your patient.  
UMDF has a number of resources to help patients find applicable clinical trials, attend a support meetings, find educational materials, and more. If you or a patient have a need, we encourage you to reach to info@umdf.org.

Frequently Asked Questions

What is the goal of this UMDF-sponsored genetic testing program?
There are still many people who have suspected mitochondrial disease who remain undiagnosed. 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 can request this genetic test?
Any U.S.-based healthcare provider can order for any U.S.-based patient(s) clinically suspected of primary mitochondrial disease can order this test.
Can patients submit a test request?
No, this program is restricted to clinicians. If you are a patient, please inform your clinician about the program and discuss your eligibility.
Who can I contact if I have general questions about the program?
You may contact UMDF for general inquiries about the program via diagnosis@umdf.org.
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 mngquickresponse@labcorp.com. UMDF is not able to answer such inquiries.
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 data 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 reside 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.
My patient has insurance that may cover genetic testing. Can I place an order using insurance to pay?
No, this program is designed as an option of last resort when private pay and insurance options have been exhausted.
I know this program does not accept insurance. Does MNG offer the test with insurance payment?
MNG Labs does not accept insurance at this time. Other providers may offer a similar test that includes insurance coverage.
Financially supported by Reneo Pharma