Laboratory services at the Oxford Centre comprise a specialist molecular genetic service and some specialist biochemical, cellular & histological analyses. A neuroradiology review service is also provided.

These services are primarily based within the Oxford Medical Genetics Laboratories of Oxford University Hospitals NHS Foundation Trust. 

Genetics

We provide a specialist molecular genetic service for:

  • Mitochondrial DNA disease
  • Leigh syndrome
  • Pyruvate dehydrogenase deficiency
  • Autosomal disorders of mitochondrial DNA maintenance
  • Reversible/transient infantile respiratory chain deficiency

This includes diagnostic testing in index cases and in affected relatives, and where applicable carrier testing, presymptomatic testing and prenatal diagnosis. For carrier testing, presymptomatic testing and prenatal diagnosis, a clinical genetics department should be involved with the referral to ensure appropriate genetic counselling. 

All samples should be accompanied by a completed Mitochondrial Proforma.

For further details of the laboratory and service provided, including sample requirements, analyses offered and testing strategy, please follow the links below:

Biochemistry and Cellular analysis

In addition to the laboratory genetics service (above), we provide a biochemical diagnostic service pyruvate dehydrogenase (PDH) deficiency by measuring PDH enzyme activity in fibroblast cultures. This can be followed by immunocytochemistry if appropriate. Direct contact with Dr Garry Brown is advised prior to sending samples. Further information on this service is also available from The National Metabolic Biochemistry Network: http://www.metbio.net/metbioAssays.asp.

Also, Prof Jo Poulton’s group investigates fibroblast cultures from patients for mosaic cellular mtDNA depletion. This is apparent in 20-25% of patients with defects in mtDNA maintenance. It is particularly useful for past patients from whom fibroblasts are the only remaining sample.

FGF21 biomarker analysis

FGF21 is a relatively new biomarker for the investigation of patients with suspected Mitochondrial Disease. Its serum concentrations are increased significantly in a good portion of patients with Mitochondrial Disease, but the sensitivity and specificity of the test are not yet well defined. Work is in progress in this area, and also for better defining the FGF21 reference intervals and thresholds, particularly in children. Normal concentrations do not exclude mitochondrial disease, and increased concentrations may be secondary to other conditions. The results should therefore be interpreted in the light of other clinical and investigative findings and indices.

Sample requirements: 0.5 mL of serum (from about 1.0 mL clotted sample).  The specimen needs to be separated within an hour of collection and the serum stored frozen at -20oC or below. The frozen specimen needs to be sent as such (i.e. on dry ice) to the Department of Clinical Biochemistry at the John Radcliffe Hospital in Oxford.  If sending a specimen on dry ice is not possible, please keep the sample frozen and discuss with Reza Morovat.

There is a charge of £30 per sample for the assay service.

Samples should be addressed to, and further information may be obtained from, Dr. Reza Morovat, Consultant Clinical Biochemist, Department of Clinical Biochemistry, John Radcliffe Hospital, Oxford OX3 9DU; Tel. 01865-220476; Fax 01865-220348

Muscle histology review service

Our neuropathology team, together with Prof Jo Poulton, can review muscle histology slides for evidence of mitochondrial disease/myopathy.

Slides should be addressed to Dr Monika Hofer, Consultant Neuropathologist, Department of Neuropathology, West Wing, John Radcliffe Hospital, Oxford OX3 9DU; Tel: 01865 231697

Neuroradiology review service

Our neuroradiology team, together with Prof Jo Poulton and Dr Garry Brown, can review brain MRI scans for evidence of Mitochondrial Disease.

MRI scan images should be sent (electronically or on CD) to Dr Gerardine Quaghebheur, Consultant Neuroradiologist, Department of Neuroradiology, West Wing, John Radcliffe Hospital, Oxford OX3 9DU; Gerardine.quaghebeur@ouh.nhs.uk; Tel: 01865 234512