P247: Diagnostic yield of genetic testing in adults with ataxia: A decade of experience at the Johns Hopkins Ataxia Center

Genetics in Medicine Open 2026 Open access

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Authors: M. May, Hadley Bryan, Karen S. Raraigh, Ashley N. Kucharski, Toluwani Olarinde, Liana Rosenthal, Weiyi Mu
DOI: 10.1016/j.gimo.2026.103741
Cited by: 1

Abstract

This retrospective study describes the diagnostic yield of genetic testing in adults with ataxia who were evaluated at the Johns Hopkins Ataxia Center from 2014 to 2024. The Johns Hopkins Ataxia Center (JHAC) has outlined a comprehensive genetic testing algorithm for completing genetic testing since 2014, which has been revised over time to reflect updates in the field. Most recently, genome sequencing, with the ability to detect repeat expansions, is recommended as the first-line genetic test in the absence of a known familial variant.

Fields of Study & Subjects

Genetic Neurodegenerative Diseases BRCA gene mutations in cancer DNA Repair Mechanisms

Publication details

Journal / source
Genetics in Medicine Open
Publisher
Elsevier BV
Volume
4
Pages
103741–103741
Publication date
1 January 2026
Language
EN