About the Test
Claritas Genomics’ flagship test is the Claritas Clinical Exome (the “CCE”), a whole exome sequencing test that is ordered by physicians to help identify the underlying molecular cause(s) of a patient’s clinical symptoms.
In the past, genetic testing focused on analyzing just one gene at a time; in comparison, the CCE provides information about all known protein-coding genes (exons) at the same time. All exons combined are referred to as the exome. This means that nearly 20,000 genes are analyzed simultaneously, looking for differences in an individual’s DNA that may cause disease. These differences, called variants, polymorphisms, or mutations, may be inherited from parents (even if the parents do not have the clinical features themselves) or may originate in the individual being tested (de novo). The CCE examines only the exons in the genome because that is where most of the clinically significant changes occur and those changes are most readily interpreted. A whole genome study would look at more of the genome, including introns, which are the regions between the exons. It is much more difficult to understand the significance of changes in these regions, so the added information is usually not clinically helpful.
Our CCE test is useful for patients who have complex symptoms that overlap several genetic disorders, for patients who have had many genetic tests but no diagnostic findings, or for patients who have just become symptomatic and have had no genetic testing.
If the test is diagnostic, which means that it identified a variant (a change in a gene) that explains your child’s symptoms, you may have the option of being connected with researchers who are investigating your disease. Goals of these research projects are vast and may include uncovering the basic foundation of the disease, or identifying treatment options.
If the test is not diagnostic, meaning that it did not uncover an explanation for your clinical symptoms, Claritas Genomics can release the “raw data” to your provider if you consent to this. Your provider may have more insight into variants in genes that may be relevant to your symptoms. In some cases, you may also be given the opportunity to connect with researchers who are studying your potential condition.