Suspected Mitochondrial Disease

High index of suspicion

• • Clinical detailed assessment and exam • Pedigree analysis • Further phenotyping of symptoms

Noninvasive laboratory screening

• • Biochemical analytes testing Blood and urine • Screening labs Blood and urine to test for other organ involvement

Genetic diagnostic testing

• • Whole exome sequencing Blood of proband and parents • mtDNA genome sequencing (NGS) Blood, urine, buccal cells, and/or hair

Positive

• Treatment and management: • Standardized clinical care • Clinical trials

Negative or Inconclusive

• Tissue testing: Skin and/or muscle biopsy (+ liver if symptomatic): • Histology • Immunohistochemistry • ETC enzymes activity • mtDNA genome sequencing • mtDNA content analysis • CoQ10 level • Research testing