Answers from the Lab

Linda Hasadsri, M.D., Ph.D., discusses Mayo Clinic Laboratories' comprehensive approach to testing for mitochondrial disease, a challenging condition to diagnose because of the extreme variance in disease presentation. Mayo Clinic Laboratories’ suite of biochemical and molecular mitochondrial disease tests employs emerging technologies, including next generation sequencing and droplet digital PCR, to identify genetic biomarkers and mutations, confirm diagnosis, and determine heteroplasmy.

Show Notes

(00:32):
Before we get started, Dr. Hasadsri, could you provide us with a little bit about you and your background?

(02:43):
Can you differentiate a little bit between what we offer from a molecular standpoint, but what we offer from a biochemical genetic standpoint in terms of mitochondrial testing?

(06:25):
When you would utilize this mitochondrial testing and what kind of patient treatment is this kind of testing guide? How is this utilized in terms of the way the patient is treated?

(09:10):
How does the testing that Mayo clinic lab offers in terms of mitochondrial differ from what other labs are offering right now in the same area?

(13:33):
Is there anything you can think of that you would want to add to all of this or anything you think that we we've left out? I think you've been very comprehensive, but I just wanted to end with that and just see if there was anything else that you wanted to say?

 
Resources
GDF15 | Growth Differentiation Factor 15, Plasma
OAU | Organic Acids Screen, Urine
AAQP | Amino Acids, Quantitative, Plasma
TQ10 | Celiac Disease Serology Cascade, Serum
FAPM | Fatty Acid Profile, Mitochondrial (C8-C18), Serum
PYR/PYRC | CPyruvic Acid, Blood/ Pyruvate, Spinal Fluid
PDHC | Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts
MITOP | Mitochondrial Full Genome Analysis by Next-Generation Sequencing (NGS), Varies
MITON | Mitochondrial Nuclear Gene Panel by Next-Generation Sequencing (NGS), Varies
MITOT | Combined Mitochondrial Analysis, Mitochondrial Full Genome and Nuclear Gene Panel, Varies
 

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