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.