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

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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