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The Pathologist / Issues / 2025 / December / New Genetic Test Targets Rare X-Linked Movement Disorder / Summary
Neurology Genetics and epigenetics Omics Research and Innovations Molecular Pathology

New Genetic Test Targets Rare X-Linked Movement Disorder

A targeted assay, presented at AMP 2025, identifies disease-specific TAF1 variants that standard panels often miss.

12/03/2025 News 3 min read
article Full Article Summary Notecard

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Researchers at Brigham and Women’s Hospital and Harvard Medical School have created a targeted genetic test for X-linked dystonia-parkinsonism (XDP), a rare movement disorder mainly found in men of Filipino descent. Presented at the 2025 Association for Molecular Pathology annual meeting, this test identifies specific DNA changes in the TAF1 gene that standard sequencing often misses. XDP leads to severe symptoms impacting daily life, highlighting the importance of this advanced diagnostic tool in enhancing identification and management in affected populations.

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