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

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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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

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Autosomal recessive inheritance

Conditions tested

Target population

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Patients with Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

Citations

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Clinical validity

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Clinical utility

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Establish or confirm diagnosis

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