SummaryShort summary of a recent publication, written by scientific experts.
Published: 15 May 2023
Consideration of clinical genetic testing panels for amyotrophic lateral sclerosis: proposed guidance for laboratories
The underlying cause of amyotrophic lateral sclerosis (ALS) is unknown; however, genetic variations linked to ALS have gained increased attention in the field of diagnosis and treatment.
This study provided evidence of genetic panels specific to ALS by evaluating 14 clinical panels from 14 laboratories (gene coverage: 4 to 54 genes). ANG, SOD1, TARDBP, and VAPB genetic variants were identified in all panels, while 7 panels (50%) included C9orf72 hexanucleotide repeat expansion (HRE) as an option. In at least one of the panels, 40 of 91 genes were included in a single panel. It was further reported that 14 genes from the panel were not directly linked to ALS.
The authors concluded that a standardized consensus on gene inclusion for clinical ALS testing is important to improve diagnostic yields and close the treatment gap in ALS.