What a validated mitochondrial workup actually measures
No single test diagnoses every mitochondrial disorder. Expert workups combine genetics, metabolites, clinical findings and—in selected cases—tissue-level functional analysis. Availability and specimen requirements vary by country and laboratory.
Whole mtDNA sequencing
Full mitochondrial-genome NGS with heteroplasmy and deletion analysis. A second tissue may be needed when blood is negative.
Example: Mayo MITOP ↗Nuclear gene panels / exome
Most mitochondrial proteins are nuclear-encoded. Multigene panels or exome sequencing can find causes missed by mtDNA testing.
Example: 221-gene panel ↗Muscle biopsy function
Respiratory-chain enzyme activity, COX/SDH histochemistry and sometimes high-resolution respirometry assess function directly.
Consensus guidance ↗Lactate & pyruvate
Useful first-line metabolic clues with clinical reference ranges—but nonspecific, and never a stand-alone diagnosis.
Example: metabolite panel ↗Clinical access points
MITOP whole-mtDNA NGS accepts blood, muscle, nerve and other validated specimens. MMPP plasma metabolites is performed under CLIA requirements but is not FDA-cleared—typical for a laboratory-developed test.
Test definition ↗National test pathways include whole mtDNA sequencing (R300.1), rearrangement testing and nuclear analysis. Choice of blood, urine or muscle depends on phenotype and heteroplasmy.
UK best-practice guide ↗Whole-mitochondrial-genome NGS is listed for EDTA blood, saliva, urine, muscle/liver and CVS. Access is through clinical referral; authorization and funding vary.
Service listing ↗The molecular diagnostics program lists mitochondrial genome sequencing and depletion/integrity analysis for physician use across Canada.
Program details ↗Seahorse and Oroboros platforms are powerful research or specialist-lab instruments, not validated direct-to-consumer diagnoses. Wellness kits claiming to score “mitochondrial age” or prescribe treatment should show analytical validity, clinical validity and utility—not just a compelling dashboard. Read our IGL test deep dive ↓