Genomic DNA extracted from blood or saliva are fragmented, adapter ligated, and barcoded. Library fragments are sequenced (2x150 base paired end) using Sequencing-By-Synthesis (SBS) chemistry and the Illumina NovaSeq sequencer with a minimum coverage of at least 20X for 90%. Sequence data are aligned to the GRCh38 assembly after discarding low quality sequences. Illumina's DRAGEN (Dynamic Read Analysis for GENomics) platform is used for demultiplexing, read mapping, genome alignment, read sorting, duplicate marking, and variant calling. Technical sensitivity of this assay is 99.10% (95% CI: 99.04-99.16%) and the positive predictive value is 99.39% (95% CI: 99.37-99.41%). All disease-associated variants on the report are confirmed via Sanger sequencing or another orthogonal technology.
Diagnostic genome sequencing test
The genome sequencing test aims to end the diagnostic odyssey for individuals with rare genetic disorders, ultimately guiding clinical care for patients and their families. This test provides physicians with high quality genome sequencing, as well as unparalleled data interpretation. Results will be returned to the ordering physician in a concise report featuring an overall test result and in-depth phenotype-driven interpretation of known or plausible genetic causes of disease. Patients have the option to expand the report to include clinically actionable secondary findings (unrelated to the primary indication for testing).
If you would like assistance in determining the appropriateness of genome sequencing for your patient, you may contact us by phone or submit pages two to three of our requisition form, along with your contact information, and we will contact you.
Genomic screening test
Genomic screening tests provide genomic information for individuals over 18 years of age who are interested in learning more about their health, reproductive and/or pharmacogenomic risks. This test provides high quality genome sequencing, as well as unparalleled data interpretation. Results will be returned to the ordering physician in a concise report. Expanded Genomic Screening Test analyzes more than 3,500 genes with strong or definitive disease association and includes interpretations on pathogenic and likely pathogenic variants, carrier status variants, risk alleles, and PGx results. Complete genomic data is available in BAM or VCF files.
If you would like assistance in determining the appropriateness of genomic screening for you or your patient, you may contact us by phone or submit pages two to three of our requisition form, along with your contact information, and we will contact you.
