Neurodegeneration with Brain Iron Accumulation (NBIA) Panel

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders characterized by abnormal accumulation of iron in the basal ganglia (most often in the globus pallidus and/or substantia nigra). Generalized cerebral atrophy and cerebellar atrophy are frequently observed. The hallmark clinical manifestations of NBIA are progressive dystonia and dysarthria, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Although cognitive decline occurs in some genetic types, more often cognition is relatively spared. Onset ranges from infancy to adulthood. Progression can be rapid or slow with long periods of stability. This panel includes sequence and deletion/duplication analysis of all the listed genes.