Examples of genes in Category 1 that scored 12 or higher and were not listed on commercial laboratory panels include: F8 associated with hemophilia A and other hemophilia-associated genes, VWF associated with von Willebrand disease type 3, MITF associated with Waardenburg syndrome type 2A, BAG3 associated with cardiomyopathy and other cardiomyopathy-associated genes, TGFB3 associated with Loeys-Dietz syndrome, PIK3CD associated with immunodeficiency and other immunodeficiency-associated genes, and RET associated with multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. The gene discussed is TGFB3; the disease is Waardenburg syndrome type 2A.