For providers

CancerVision

암 환자를 위한 전장유전체 기반 진단 솔루션

본 검사는 암환자를 위한 포괄적 암진단 솔루션으로 실제 의료 현장에서 높은 임상 활용가치를 확인하였습니다.

• A 2-in-1 test: Paired somatic-germline testing
• Liquid biopsy for cancer profiling with cfDNA** when tissue sample fails
• Target-enhanced whole-genome sequencing: An average of 40x depth WGS backbone with focused exploration of an average of 500x depth for 500 key biomarker genes.
• All types of alterations: Single nucleotide variants (SNVs), small indel variants, large structural variants (SV), and copy number variants (CNV), including variants in non-coding regions.
• Genome-wide signatures: Our proprietary algorithms for Tumor Mutational Burden (TMB), Microsatellite instability (MSI), Homologous recombination deficiency (HRD), and more.
• Germline WGS reports pathogenic germline variants according to ACMG guidelines
• Clinical trial matching support
• Expert consultation available upon request (including Molecular Tumor Board)
• 2-week turnaround time***

*https://www.medrxiv.org/content/10.1101/2024.02.08.24302488v1

**https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431421/ Circulating cell-free DNA (cfDNA)> refers to extracellular DNA present in body fluid that may be derived from both normal and diseased cells.

*** 2 weeks from receipt of the tissue and blood samples at our lab.

RareVision

희귀질환을 위한 정밀한 전장유전체 진단 솔루션대규모 임상연구에서 RareVision은 기존 유전 진단법으로는 발견되지 않았던 희귀질환 사례를 23.6% 더 높은 검출률로 확인하였습니다. RareVision은 다음과 같은 차별화된 강점을 제공합니다

• An average of ~30x depth for whole genome sequencing, tested with more than 3,000 patients (over 6,000 cases including family members).
• High clinical utility: 30-50% positive diagnosis rate, depending on age group and disease criteria (on par with the best-in-class pipeline in the world).
• Genes associated with rare diseases from one of the most up-to-date databases*
• Following ACMG/ClinGen guidelines and standards
• Expert consultation available upon request
• 2-week turnaround time**