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Oxford University Hospitals NHS Foundation Trust

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Mitochondrial disorders

Please complete a mitochondrial pre-referral form to accompany samples (see referral forms).

The laboratory provides the following services (R codes relate to the NHS England National Genomic Test Directory):

  • Targeted mitochondrial DNA tests (selected as clinically appropriate and reported together on a single report):
    • R64 MELAS or MIDD Diagnostic testing - m.3243A>G
    • R65 Aminoglycoside exposure posing risk to hearing m.1555A>G
    • R299 Possible mitochondrial disorder - mitochondrial DNA rearrangement testing
    • R350 MERRF syndrome - m.8344A>G
    • R351 NARP syndrome or maternally inherited Leigh syndrome - m.8993T>C/G
    • R397 Maternally inherited cardiomyopathy - m.4300A>G
  • R300 Possible mitochondrial disorder - whole mitochondrial genome sequencing
  • R301 Possible mitochondrial disorder - mitochondrial DNA depletion (muscle or liver tissue/DNA required)
  • R315 POLG-related disorder
  • R316 Pyruvate dehydrogenase (PDH) deficiency
  • R317 Mitochondrial liver disease, including transient infantile liver failure
  • R352 Mitochondrial DNA maintenance disorder
  • R353 Mitochondrial disorder with complex I deficiency
  • R354 Mitochondrial disorder with complex II deficiency
  • R355 Mitochondrial disorder with complex III deficiency
  • R356 Mitochondrial disorder with complex IV deficiency
  • R357 Mitochondrial disorder with complex V deficiency
  • R63 Possible mitochondrial disorder - nuclear genes
  • R394 Mitochondrial neurogastrointestinal encephalopathy
  • R395 Thiamine metabolism dysfunction syndrome 2
  • R396 Mitochondrial complex V deficiency, TMEM70 type
  • R42 Leber hereditary optic neuropathy

Testing for previously identified familial variants, as clinically appropriate, is available.

We also provide a biochemical service to measure Pyruvate Dehydrogenase (PDH) enzyme activity in cultured fibroblasts.

The Oxford mitochondrial genetics diagnostic service is part of NHS Highly Specialised Services for rare mitochondrial disorders:

NHS Rare Mitochondrial Disorders Service


Further information on the laboratory's involvement in mitochondrial genetics research is available on the Oxford research page of the NHS Rare Mitochondrial Disorders Service website.