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GTR Home > Tests > NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)


This is a clinical test intended for Help: Diagnosis

Clinical summary


Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. [from ORDO]

Inheritance pattern


Autosomal recessive inheritance

Conditions tested

Target population


Patients with Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)


Not provided

Clinical validity


Not provided

Clinical utility


Establish or confirm diagnosis

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