Amyotrophic lateral sclerosis and frontotemporal dementia
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.
Frontotemporal dementia and ALS Test menu
Frontotemporal dementia and ALS
Our 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, FTD, or ALS.
- AFTDP | Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies
- Evaluates 50 genes associated with frontotemporal dementia and/or ALS 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 ALS.
- Detects single nucleotide and copy number variants in the SOD1 gene.
- APOEG | Apolipoprotein E Genotyping, Blood
- NTC3Z | NOTCH3 Gene, Full Gene Analysis, Varies
References
- 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