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Ten years ago, commercial ALS genetic testing was limited to SOD1 sequencing. Commercial laboratories now offer a variety of multigene ALS panels, assays for the C9orf72 hexanucleotide expansion, and whole exome sequencing. The utility of genetic testing as part of ALS clinical management is valued by people with ALS1 and ALS clinicians.2 However, US care guidelines do not address the offer of genetic testing, and European guidelines specify that ALS genetic testing should be offered only to patients with familial ALS or the SOD1 D90A phenotype.3 To understand the current state of ALS genetic testing, we surveyed certified commercial laboratories to gather data on test methods, outcomes, and reporting.

Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing