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Laboratory and diagnostic Services

These services are primarily based within Oxford Genetics Laboratories.

Laboratory services comprise a specialist Molecular Genetic Service and some specialist biochemical, cellular and histological analyses. A neuroradiology review service is also provided.


We provide a comprehensive specialist molecular genetic service for mitochondrial disorders including:

  • Mitochondrial DNA disease
  • 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.

Request forms - Genetics Laboratories

Further details

Oxford Genetics Laboratories

Specimen requirements and referring samples

Biochemistry and cellular analysis

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.

Assay Directory -

Also, Prof Jo Poulton’s group investigates fibroblast cultures from patients for mosaic cellular mtDNA depletion. This is apparent in 20-25 percent 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.

Further information is provided in our publication:

Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice - MDPI

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 -20C or below.

The frozen specimen needs to be sent as such (i.e. on dry ice) to Clinical Biochemistry:

Contact us - Clinical Biochemistry

If sending a specimen on dry ice is not possible, please keep the sample frozen and discuss with Dr Reza Morovat.

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

Muscle histology review service

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

Address slides to:

Dr Monika Hofer, Consultant Neuropathologist
Department of Neuropathology and Ocular Pathology
West Wing, John Radcliffe Hospital
Oxford OX3 9DU

Tel: 01865 231697

Neuroradiology review service

Our Neuroradiology team, together with Dr Victoria Nesbitt, can review brain MRI scans for evidence of Mitochondrial Disease.

John Radcliffe Hospital West Wing Neuroradiology

Send MRI scan images electronically or on CD to:

Dr Robin Joseph
Consultant Neuroradiologist
Department of Neuroradiology
West Wing, John Radcliffe Hospital
Oxford OX3 9DU


Last reviewed:19 March 2024