DNA-targeted sequencing kit for the Detection of Single Nucleotide Polymorphisms (SNPs) and Insertions/Deletions (INDELS) associated with NDs Context Neurodegenerative diseases (NDs) are multifactorial complex disorders with genetics playing a crucial role in their development. The challenge of their early detection and precise diagnosis is ever more pressing. Traditional diagnostic methods are often invasive, such as cerebrospinal fluid (CSF) sampling, or costly, such as PET scans. Thus, the demand for a less invasive, blood-based test that can accurately diagnose NDs early, aid in drug development, and inform treatment choices is significant. NeuroDeGene® is a solution to this challenge, offering an innovative genetic panel aimed at the early detection and prognosis of various NDs. This panel taps into the genetic architecture underlying NDs while also meeting the critical need for less invasive diagnostic approaches. Assay principle - A DNA-targeted sequencing kit developed in partnership with Celemics, Inc. Company. - Transforms the diagnosis and management of NDs, by identifying SNPs and INDELs linked to these conditions. - Creates predictive models for diseases that are historically difficult to diagnose by leveraging cutting-edge sequencing technologies, bioinformatics pipelines, and machine learning. - Provides significant benefits for diagnosing and prognosticating NDs, supporting clinical research, and leading to individualized treatment plans. - Includes over 15,000 variants across 19 diseases, focusing particularly on non-coding variants, which make up about 70% of the panel and are crucial to disease development. Fig 1. Number of variants per disease: 15 536 variants distributed across 19 NDs. Fig 2. Number of variants depending on the functional consequence (70% non-coding variants). Amoneta Diagnostics | 17, Rue du Fort, 68330 Huningue, France | +33 3 89 91 13 20 | [email protected]

Efficient capture sequencing and genotyping NeuroDeGene® delivers increased median coverage across target variants and provides robust genotyping. 99.7% good quality genotypes obtained with NeuroDeGene compared to 94.4% with WGS Fig 3. NeuroDeGene® median coverage compared to WGS. Fig 4. Number of failed genotyping per SNP for sequenced samples. An evolving genetic panel Fig 5. NeuroDeGene® simplified workflow Amoneta Diagnostics, subsidiary of Firalis, is a biotechnology company committed to advancing the understanding and diagnosis of neurodegenerative diseases by leveraging a comprehensive...