Table 1.

Molecular Genetic Testing Used in DRPLA

Gene 1Method 2, 3Proportion of Probands with a Pathogenic Variant Detectable by Method
ATN1 Targeted analysis for CAG expansions100%
1.
2.

See Molecular Genetics, ATN1 technical considerations, for specific methods to characterize the number of CAG repeats in ATN1.

3.

Note: To date, standard sequence-based multigene panels and exome sequencing cannot reliably detect pathogenic CAG repeat expansions in this gene.

From: DRPLA

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2025.
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2025 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.