We are pleased to announce that all UW exome tests are now performed on a genome backbone and include testing for copy number variants (CNVs) as well as optional mitochondrial genome sequencing analysis.
Exome analysis targets protein coding genes and other clinically relevant regions of the genome. Targeted regions include the following with 50 bp flanks on each side:
• RefSeq Curated and GENCODE (incl. Ensembl) transcripts
• 5’ UTR and 3’ UTR region for protein coding genes
• OMIM disease-related RNA genes
• All ClinVar Pathogenic/LP variants regions (version Dec. 2022)
• Promoter regions (EPDnew human version 006)
• All microRNA genes
• Full mitochondrial genome
Validated variant types include SNVs/indels <50bp, CNVs >1kb, regions of homozygosity >3Mb, some types of UPD, and mitochondrial variants, all provided in a single report.
All next generation sequencing (NGS) panels and panels on demand (EXPNL test code) also now include CNV detection for the genes within the panel.
Insurance pre-authorization assistance provided.