Disorders of mitochondrial energy generation can be caused by mutations in approximately 200 different nuclear genes as well as in mitochondrial DNA. Mutations in some nuclear genes cause distinct genotype/phenotype correlations that may prompt candidate gene analysis. Autosomal recessive SURF1 mutations are a common cause of Leigh syndrome, particularly when there is relative cognitive sparing. Autosomal recessive POLG mutations can cause a range of disorders such as Alpers-Huttenlocher syndrome, ataxia-neuropathy spectrum and related disorders, while autosomal dominant POLG mutations can cause chronic progressive external ophthalmoplegia with multiple mtDNA deletions. For other presentations suggestive of a nuclear-encoded mitochondrial disorder we recommend performing clinical exome sequencing.
Next Generation Sequencing (NGS) gene panel (PolG and SURF1): $1,000
Carrier testing by Sanger sequencing (PolG or SURF1): $250
Prenatal testing by Sanger sequencing (PolG or SURF1): $600
NGS panel (POLG; SURF1): 12 weeks
Carrier testing (PolG or SURF1): 4- 6 weeks
Prenatal testing (PolG and SURF1): 1- 3 weeks
EDTA blood: Adult: 2 x 5 ml
Amniotic Fluid 20ml
Chorionic Villus 20mg
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.