This case study describes how Congenica used its flexible interpretation workflows to identify the pathogenic variant responsible for a boy's developmental disability as well as a lost male pregnancy in the same family.
To determine whether an inherited condition may explain the family’s clinical history, DNA samples from the sibling pair were sent to Congenica for "duo" whole exome sequencing.
Congenica’s clinical team used its software to accurately identified a likely pathogenic novel hemizygous variant in the UBE2A gene, located on the X chromosome. The variant was shared by both affected males in the family.
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