Table 1.

Genomic Testing Used in Spinocerebellar Ataxia Type 20

Duplication 1MethodProportion of Probands with a Pathogenic Variant Detectable by Method
Heterozygous duplication at 11q12.2-11q12.3 2CMA 3100%
Targeted duplication analysis 4100%
1.

See Molecular Genetics for details of the duplication and genes of interest in the region.

2.

For this GeneReview, the 11q12.2-11q12.3 recurrent duplication, observed in all reported individuals with SCA20, is defined as a 260-kb duplication at the 11q12 region of chromosome 11.

3.

Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP arrays. CMA designs in current clinical use target the 11q12.2-11q12.3 region.

4.

Targeted duplication analysis methods can include FISH, quantitative PCR (qPCR), and multiplex ligation-dependent probe amplification (MLPA), as well as other targeted quantitative methods.

From: Spinocerebellar Ataxia Type 20

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, 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 (© 1993-2024 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.