Research exome sequencing
Families with Mendelian conditions who lack a precise genetic diagnosis often get exome sequencing results or “raw” sequencing data (e.g., VCF and BAM files) as part of an evaluation by a physician (i.e., clinical testing) or by participating in a research project. Some families who create MyGene2 profiles also consent to participate in a research project known as the University of Washington Repository for Mendelian disorders (UW-RMD). A small number of families that participate in the UW-RMD are selected for exome sequencing to be done for free by the University of Washington Center for Mendelian Genomics (UW-CMG). However, most families do not meet the eligibility criteria for free sequencing. Families not selected for sequencing by the UW-CMG, can now opt to pay a fee ($825 per sample) for research exome sequencing done in a Clinical Laboratory Improvement Amendment (CLIA)-certified lab. This cost includes a saliva collection kit, DNA extraction, shipping & handling, payment processing and return of a report of primary findings (e.g., a causal variant for your condition) and sequencing data. If no primary finding is identified, your candidate genes and variants will be uploaded to your MyGene2 profile for sharing with other families, clinicians, and researchers. You can search your sequencing data for secondary findings (i.e., variants unrelated to the primary diagnosis such as medication response) using tools provided by MyGene2. It will take 8-12 weeks from receipt of sample to receive results.