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Detection of novel duplication variant in ADAMTS13 gene using chromosomal microarray analysis

Hannah Leigh Helber1,2, Taylor Olmsted Kim3,4, HyoJeong Han5

  • 1Baylor College of Medicine Pediatrics Department, Texas Medical Center, Houston, Texas, USA hlhelber@texaschildrens.org.

BMJ Case Reports
|June 11, 2024
PubMed
Summary

A novel ADAMTS13 gene variant causing congenital thrombotic thrombocytopenic purpura was identified in a child. Chromosomal microarray analysis revealed a large exon duplication, a new diagnostic approach for ADAMTS13 variants.

Keywords:
Genetic screening / counsellingGeneticsHaematology (incl blood transfusion)

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