Abstract
We present a case of a child with congenital thrombotic thrombocytopenic purpura found to have a compound heterozygous variant in theADAMTS13gene with a novel variant resulting in a large duplication of exons 9–11 ofADAMTS13. This variant was identified through additional molecular testing via a chromosomal microarray analysis. To our knowledge, this assay had not previously been utilised to identify anADAMTS13variant and the additional testing was possible through the involvement of a genetic counsellor.