Clinical Diagnostics
Clinical diagnostics
With expertise in Next Generation Sequencing technologies and clinical bioinformatics, Vascular Genetix offers robust and reproducible diagnostic services with the sensitivity needed to meet clinical requirements.
Our automated, cutting-edge technology and validated bioinformatic pipelines enables us to tailor validated tests to the needs of our clinical partners. Vascular Genetix offers sequencing service for comprehensive human whole genome and exome analyses using the Illumina NovaSeq 6000 and Dragen Bio-IT platforms.
Whole exome sequencing (WES) is a powerful tool for investigation of genetic variance across the protein coding regions of the human genome. WES provides high confidence in variant calls for the identification of inherited rare mendelian disorders, complex diseases and somatic mutations in cancer.
- Libraries are prepared by using Twist Exome 2.0 Kit with UDIs targeting 36.5 Mbp of human protein coding and non-coding regions incl. mitochondrial genes
- Sequencing is performed on Illumina NovaSeq 6000 with 2×150 bp paired-end run, Q30 ≥ 85%
- Throughput: 12 Gbp for germline; 18 Gbp for somatic variant detection
Whole genome sequencing (WGS) provides the most comprehensive analysis of genome variance and structure. WGS enables accurate detection of single nucleotide variants (SNV), and structural variation of human genomes.
- PCR-free libraries are prepared by using NEXTFLEX Rapid XP DNA Seq Kit v2 with UDIs
- Sequencing is performed on Illumina NovaSeq 6000 with 2×150 bp paired-end run, Q30 ≥ 85%
- Throughput: 90 Gbs for 30x ; 120 Gbp for 40x coverage
Vascular Genetix offers sequencing service for variant detection of different human targeted genes upon your needs for e.g.
- Tumor hotspot genes like KRAS, NRAS, BRAF, EGFR, TP53
- BRCA1&2 germline or somatic variants
- HLA testing
