Genomic testing may identify the gene variant(s) that causes a genetic condition. This diagnosis can confirm the patient’s condition, and can help with prognosis and management.
We use whole genome sequencing (WGS) to produce information across the genome for analysis and clinical interpretation. We can tailor the scope of the analysis and interpretation either to the complete genome or to a panel of specific genes based on a clinical assessment and to meet the needs, and expressed intention of the individual patient.
Previously, diagnosing genetic disorders commonly relied on a range of consecutive genetic tests, performed in series, one after the other. This meant that finding definitive answers could take an extended period of time.
With clinical WGS, we use a different approach, which can potentially increase the speed and likelihood of a successful diagnosis.