Gene Testing - why?

admin  ∼  July 25, 2014  ∼  Mitochondrial disease Gene testing Diagnose Test Evaluation

VMP's Dr Fran Kendall Factoid Friday Blog on Rare Diseases


Many patients are told by non-mitochondrial disease doctors that there is no reason for gene testing. Gene testing is indicated in all presumed mitochondrial patients for several reasons. Many patients with presumed mitochondrial disease based on muscle biopsy results ONLY have been re-diagnosed with a variety of other disorders, changing their care, need for certain long-term follow-up, and the recurrence risks for themselves and their children. In addition, with more and more focus on potential clinical treatment trials, the sub-type of mitochondrial disease is important to understand in each and every patient to determine if they are eligible for various treatment modalities. If you have a doctor who does not believe in gene testing then consult with another provider to gain the knowledge you need and deserve.

This post is not meant to be a recommendation or a substitute for professional advice and services rendered by qualified doctors, allied medical personnel, and other professional services. The responsibility for any use of this information, or for proper medical treatment, rests with you.