Neurodegeneration with Brain Iron Accumulation (NBIA) Molecular Genetics Tests

OHSU Knight Diagnostic Laboratories offers multiple genetic tests for Neurodegeneration with Brain Iron Accumulation (NBIA).

Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of neurodegenerative diseases caused by iron accumulation in the basal ganglia leading to progressive dystonia, parkinsonism, neurocognitive anomalies, and ophthalmologic disorders.  The age of onset varies from infancy to late adulthood, and progression can be rapid or slow with long periods of stability. 

NBIA Panels
Our next-generation sequencing (NGS) NBIA panel is designed to detect mutations specific to NBIA. NGS is a more efficient means of obtaining comprehensive sequencing compared to other sequencing techniques. For more general information about NGS panel testing, please read our Next Generation Panel Testing Booklet <link to booklet PDF>.

In addition to sequencing, KDL offers exon-centric deletion and duplication analysis.  Deletion and duplication analysis allows for the detection of copy number changes on individual exons. Because copy number changes are not detectable by sequencing only, ordering sequencing with deletion and duplication analysis together provides a more comprehensive genetic analysis.

Single Gene Tests
In addition to panel tests, NBIA single gene tests are available:

Custom Sequencing
KDL offers custom sequencing options for providers requiring sequencing of genes that are not offered through our current menu of testing options.

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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