Improve patient management   

Deepen understanding of genetic causes

Recent, rapid advancements in the understanding of genetic causes of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) paved the way for development of gene-targeted genetic therapies tailored toward individual patients.1 Genetic testing to evaluate for the neurodegenerative conditions is an increasingly vital component in the diagnosis and management of individuals affected by ALS or FTD.

Mayo Clinic Laboratories’ FTD and ALS evaluations include both targeted panels and single gene evaluations to confirm and clarify diagnosis. Using next-generation sequencing, our assays provide improved coverage, offering increased sensitivity at above 99% for single nucleotide variants, above 94% for deletions/insertions less than 40 base pairs (bp), and above 95% for deletions up to 75 bp and insertions up to 47 bp.

Key testing

C90RF    | C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies

  • Provides molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS).

AFTDP    | Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

  • Evaluates 50 genes associated with frontotemporal dementia and/or amyotrophic lateral sclerosis and repeat expansion analysis for C9orf72

SOD1Z    | SOD1 Gene, Full Gene Analysis, Varies

  • Identifies variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members.
  • Establishes a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS).
  • Detects single nucleotide and copy number variants in the SOD1 gene.

Learn more about how to order these tests at your institution.

References

  1. Roggenbuck J, Fong JC. Genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: impact on clinical management. Clin Lab Med. 2020;40(3):271-287. doi:10.1016/j.cll.2020.05.002