How ExoSeq works?
ExoSeq achieves uniform coverage and high on-target sequencing reads:
- 45 MB target region
- ≥98% of RefSeq, CCDS, and Ensembl coding content
- >80% on target reads
- >85% uniform coverage (% coverage at 20x for 4 Gb data)
ExoSeq is performed on illumina NovaSeq 6000 – the most powerful and highest throughput illumina sequencing platform till date.
What information is provided in the Report?
Agiomix provides a comprehensive clinical report reviewed by our Medical Board of Consultants and Genetic Counsellors. Pre and post-test counselling are also available to insure the complete understanding of the results.
The Test Report is divided into two sections:
- Primary Findings where the Pathogenic Variants are reported
- Secondary Findings according to The American College of Medical Genetics and Genomics (AMCG) guidelines. AMCG recommends all laboratories performing WES to report mutations in 59 specific genes. If any mutation is identified in these genes it is reported in the secondary findings section