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. 

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