Mitochondrial disorders

NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: National Genomic Test Directory - NHS England.

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

• 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

Research

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.