Solving the Unsolvable
A couple's first child started having infantile spasms at four months old, and EEG analysis confirmed the presence of a modified hypsarrhythmia pattern of seizure.
Treatment using medication was started and the seizures stopped almost immediately. A subsequent MRI examination revealed an abnormal signal in several areas of his brain and (now at three years old) he has a profound intellectual disability, global developmental delay and some dysmorphic features.
Before having more children, the parents wanted a diagnosis and sent DNA for whole genome sequencing - but no no likely causal variants were identified.
Download the case study to learn how a laboratory using Congenica identified the causal variant in just 5 minutes using whole exome trio sequencing, data processing and analysis.