Table 1.

Molecular Genetic Testing Used in GAA-FGF14-Related Ataxia

Gene 1Method 2, 3Proportion of Probands with a Pathogenic Variant Detectable by Method
FGF14 Targeted analysis of GAA expansions 4100%
1.

See Table A. Genes and Databases for chromosome locus and protein name.

2.

See Table 8 for specific methods to characterize the number of GAA repeats in FGF14.

3.

To date, standard sequence-based multigene panels, exome sequencing, and short-read genome sequencing cannot reliably detect pathogenic repeat expansions in this gene.

4.

From: GAA-FGF14-Related Ataxia

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