UMDF Genetic Testing for Suspected Mitochondrial Disease Program
PLEASE NOTE: This test can only be ordered by a healthcare professional.
If you are a patient, we encourage you to share this page with your doctor.
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.
- 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.
- 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: Up to 3 test kits 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.
- Fully complete all sections of the TRF form. Print a copy and complete signatures from physician and patient.
- Patient must read and sign the consent.
- Collect sample and place sample, completed TRF and patient consent in the return postage paid test kit box.
- 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.
For specific questions about order processing: firstname.lastname@example.org
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 email@example.com.
Frequently Asked Questions
What is the goal of this UMDF-sponsored genetic testing program?
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.