Assay

Consisting of professionals in fields of Clinical Pathology, Clinical Diagnostics, Molecular Biology,
Bioinformatics, the staffs pour endeavors to create high-quality clinical services that can be immediately
applied through continuous technological innovation.

  • Full-gene sequencing

    Tests not only check for coding areas of the genes, but also intronic regions within 20bp range of exon
    boundaries and other intronic variants with reported pathogenicity.

  • Deletion/duplication analysis

    Using the internally developed DeviCNV (Patent id: 10-2017-0024789), exon level CNV (copy number
    variant) detection of deletion and duplication is possible.

  • Coverage

    For germline testing, average depth of reads is 300x (minimum 20x over 99.9% of the bases). For somatic
    testing, average depth of reads is 2000x (minimum 500x for target variants).

  • Variant interpretation

    Every detected variant follow the 2015 guideline presented by the American College of Medical Genetics
    and Genomics (ACMG) using the internally developed variant interpretation platform Codex followed by
    expert review.

  • Confirmation

    Every reported single nucleotide variant (SNV), small insertion and deletion (INDEL), and copy number
    variants (CNV) are confirmed using Sanger Sequencing or qPCR.

Clinical diagnostic laboratory