Mutations in more than 290 different nuclear genes can cause mitochondrial disease. Clinical exome or genome sequencing will typically be the appropriate choice for nuclear gene testing.
Depending on the clinical suspicion, analysis may focus on a panel comprising >290 known nuclear-encoded mitochondrial disease genes, or, for some nuclear genes with distinct genotype/phenotype correlations, a targeted analysis with POLG and SURF1 genes may be considered.
POLG + SURF1:
|Sample Type||Sample Volume|
|EDTA Blood||Adult: 4ml
Please provide the following clinical details (if available) to enable optimal interpretation:
- Patient name, medical record no., date of birth, date of sample, delay between death and freezing if relevant.
- Full clinical summary and family history with pedigree.
- Include copies of relevant investigations
- urine organic & amino acids
- tissue histology (including electron microscopy & enzyme histochemistry)
- summary of CT, MRI or MRS studies of brain.
- Paired plasma lactate & pyruvate levels; multiple estimations preferred.
- Paired CSF lactate & pyruvate levels, preferably with blood levels obtained at about the same time.