NBIA (Neurodegeneration with Brain Iron Accumulation) is a group of genetic disorders characterized by iron accumulation in the basal ganglia. Brain iron accumulation can result in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. A minority of subtypes are associated with cognitive decline. Age of onset varies from infancy to late adulthood.
Our NBIA Del/Dup Panel includes analysis of all of the following 9 genes: ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45