What are the Medical Exome and Medical Whole Genome tests ?
Medical Exome testing provides >97% coverage of 22,000 genes of the human genome, with a mean read depth of 100X. Of the ~4600 disease-associated genes analyzed, 3000 have 100% coverage (≥20X) of all exons; which represents twice the number of genes with complete coverage when compared to what other competitors offer, making it the most comprehensive exome sequencing test available worldwide. This is usually the first-tier when ordering exome testing. To further complement the Medical exome test, CEN4GEN also has its Medical Whole genome test which analyzes what the CEN4GEN medical exome test does, in conjunction with reporting any findings that are relevant to genetic predispositions and pharmacogenomic medically actionable variants which could potentially be useful in the clinical management of the patient. If necessary, either the Medical Exome test or Medical Whole genome test can be followed up with a Medical Exome array test which is a comprehensive deletion/duplication analysis of the exome.
What are the ordering options ?
It could be beneficial to perform either the exome testing or whole genome 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 CEN4GEN has added the option of additional family member testing to any family trio. If additional family members are unavailable, testing of the proband only is also an option.
Variant Interpretation Updates:
As more information from human exome and genome sequencing projects becomes 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 variants or benign polymorphisms. Re-analysis of the patient’s Exome sequencing data can be requested from CEN4GEN.
Other exome services include interpretation only, confirmation testing and interpretation, and exome sequencing without interpretation. Please contact CEN4GEN for more information.