Exome sequencing represents a newer testing strategy for diagnosing patients with genetic disorders. The Medical EmExome offered by EGL is the next level of clinical exome sequencing. This guide is meant to answer frequently asked questions about exome sequencing, the Medical EmExome, as well as provide insight into incorporating exome sequencing into clinical practice.
What is the Medical EmExome?
The Medical EmExome sequencing design provides >97% coverage of 22,000 genes, with a mean read depth of 100X. Of the approximately 5200 disease-associated genes analyzed, 3000 have 100% coverage (≥20X) of all exons; twice the number of genes with complete coverage offered by competitors, making it the most comprehensive exome sequencing test available. This is usually the first-tier when ordering exome testing. If necessary this can be followed up with a Medical EmExome array which is a comprehensive deletion/duplication analysis of the exome.
What are the ordering options?
It is best to perform exome testing on family trios (the patient and usually the patient’s parents), as the additional information is used to help interpret some of the variants seen during analysis. Having additional affected or unaffected family members tested may also help achieve a diagnosis, which is why EGL has added the option of additional family member testing to any family trio. If additional family members are not available, proband only testing is also an option.
What is the EmExome Boost option?
This option allows clinicians to choose an EGL gene panel relevant to the patient’s phenotype to ensure coverage of all exons on all genes of the panel at no additional cost.
Do you update variant interpretation?
As more information from human exome and genome sequencing projects become available, and as more research is conducted on previously reported DNA variants, knowledge of variant classification increases. This knowledge can allow variants previously classified as variants of uncertain clinical significance to be reclassified as pathogenic, likely pathogenic, likely benign, or benign variants. Reanalysis can be requested.
Other exome services include confirmation testing and interpretation, interpretation only, and exome sequencing without interpretation.
Did you find that information useful? If so, you may consider joining us for an educational webinar on The Medical EmExome on Thursday, January 28.