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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):
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.