Many metabolic processes, distinct from ATP production, are fulfilled in mitochondria: for instance, important steps of metal cation metabolism take place in the mitochondrial matrix. Furthermore, mitochondria actively fuse and divide, and move interacting with the cytoskeleton. All these functions require the expression of nDNA. Mitochondrial disorders caused by nDNA defects have been the object of increasing attention in the past few years, establishing themselves as an important and relatively prevalent group of pathologies, and challenging the relevance of disease caused by inherited mutations of mtDNA itself.
In addition to mtDNA genome sequencing (see related tests), EGL Genetics offers this complementary panel that sequences 44 nuclear mitochondria genes through next generation sequencing technology. This technology is an excellent tool for obtaining gene sequences rapidly and accurately since it allows deep coverage of the genome through multiple independent sequence reads.
- Sosa MX et al, (2012), PLoS Comput Biol 8(10):e1002737.
- Angelini C et al, (2009), Acta Myol Jul 2009; 28(1): 16–23.
- Wang J et al, (2012), Genet Med 14:620–606.
Confirmation of a clinical diagnosis of mitochondrial diseases.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Mitochondrial Genome: Sequencing
- Mitochondrial Diseases - Nuclear Genes Only: Deletion/Duplication Panel