More than 7,000 rare diseases have been identified worldwide, with nearly 80% associated with genetic abnormalities. These diseases involve diverse pathogenic variants, including single nucleotide variants (SNVs), small insertions and deletions (Indels), copy number variations (CNVs), and chromosomal structural abnormalities. Due to their low prevalence, complex phenotypes, and heterogeneous genetic causes, rare diseases remain challenging to diagnose using conventional methods such as PCR, Sanger sequencing, and chromosome karyotyping. High-throughput sequencing technologies, including targeted gene panels and whole exome sequencing (WES), have become essential tools for precision diagnosis, enabling comprehensive detection of pathogenic variants and improving diagnostic rates for patients with suspected genetic rare diseases.
Sequanta provides comprehensive genetic rare disease testing solutions covering the entire workflow from sample processing, sequencing, bioinformatics analysis, and variant interpretation to clinical reporting. Supported by proprietary analysis algorithms, large-scale curated variant databases, and ACMG-compliant interpretation guidelines, our solutions address key challenges in rare disease diagnosis, including incomplete reference data, variant classification uncertainty, and population-specific differences. The workflow complies with international quality standards, including CLIA, CAP, and ISO 15189, and supports not only clinical molecular diagnosis but also rare disease drug development, clinical trials, and discovery of novel disease-associated genes through integrated multi-omics analysis.
