Solution reagent kit NeuroDeGene®

diagnosticfor DNA sequencingclinical

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. VARIANTS ACROSS 19 DISEASES focusing particularly on non-coding variants. GOOD QUALITY GENOTYPES obtained with NeuroDeGene® compared to 94.4% with Whole-Genome-Sequencing. VARIANTS for which NeuroDeGene® provides increased median coverage. Simplified workflow Genomic DNA (gDNA) library preparation Targeted DNA enrichment Paired end sequencing using Illumina's cutting-edge sequencing platforms in-house Alignment on human genome reference Variant detection (SNVs, INDELs) AN INNOVATIVE PRECISION MEDICINE TOOL FOR RISK PREDICTION OF 19 NDS NeuroDeGene® stands as an invaluable tool for diagnosis of NDs, prognostic applications and for supporting clinical trials. Integration of AI, machine learning and genetic analysis to develop specialized models to predict pathogenicity of genetic variants Automatized bioinformatics platform, allowing the evolution of the panel according to accumulated clinical