When a patient has broad genetic testing at Variantyx, such as an exome or genome analysis, we review data from the entire genome. Hundreds or thousands of genes are analyzed for variants that cause or contribute to a person’s symptoms. Typically these are pathogenic or likely pathogenic variants, but variants of uncertain significance may be included when they have a strong clinical correlation to the patient’s reported phenotype. Additional variants of interest may optionally be provided in an expanded report.
The expanded report will include additional variants of unknown clinical significance that appear to have a weak clinical correlation to the patient’s reported phenotype, or pathogenic and likely pathogenic variants that have no apparent correlation to the patient’s reported phenotype