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Patients are compound heterozygotes for a loss\u2010of\u2010function allele, which in most cases is a large genomic deletion on chromosome 1q21.1 containing the <jats:italic><jats:styled-content style=\"fixed-case\">RBM<\/jats:styled-content>8A<\/jats:italic> gene, and a noncoding variant located in the 5\u2032<jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content> (rs139428292) or intronic (rs201779890) regions of <jats:italic><jats:styled-content style=\"fixed-case\">RBM<\/jats:styled-content>8A<\/jats:italic>. As the molecular genetic testing in <jats:styled-content style=\"fixed-case\">TAR<\/jats:styled-content> requires multiple techniques for detection of copy\u2010number variations (<jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>) and nucleotide substitutions, we tested whether a next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) approach could identify both alterations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two unrelated families were analyzed with Ion <jats:styled-content style=\"fixed-case\">PGM<\/jats:styled-content> sequencing using a target panel of genes responsible for different forms of inherited thrombocytopenia. A statistical quantitative evaluation of amplicon coverage was performed to detect <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>, in particular those on the <jats:italic><jats:styled-content style=\"fixed-case\">RBM<\/jats:styled-content>8A<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All the probands were apparently homozygous for the rare allele inherited by the father at the rs139428292 locus, suggesting the presence of a deletion on the maternal chromosome. The statistical analysis confirmed the hemizygous condition of <jats:italic><jats:styled-content style=\"fixed-case\">RBM<\/jats:styled-content>8A<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We concluded that <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> approaches could be used as a cost\u2010effective method for molecular investigation of <jats:styled-content style=\"fixed-case\">TAR<\/jats:styled-content> as they could simultaneously detect <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content> and point mutations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.12516","type":"journal-article","created":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T05:47:37Z","timestamp":1466401657000},"page":"412-418","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Molecular diagnosis of thrombocytopenia\u2010absent radius syndrome using 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