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A putative positive result is reported together with an advice for parents, partner, or family analysis. For couples, presumed at\u2010risk confirmation at the\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    level is essential. In general, this part of diagnostics is done in specialized centers provided with sufficient experience and the technical tools needed to combine hematological and biochemical interpretation with identification of the mutations at the molecular level. State\u2010of\u2010the\u2010art tools are usually available in centers that also provide prenatal diagnosis and should consist of gap\u2010\n                    <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\n                    for the common deletions, direct\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    sequencing for all kind of point\u2010mutations and the capacity to uncover novel or rare mutations or disease mechanisms. New developments are\n                    <jats:styled-content style=\"fixed-case\">MLPA<\/jats:styled-content>\n                    for large and eventually unknown deletion defects and microarray technology for fine mapping and primer design for breakpoint analysis. Gap\u2010\n                    <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\n                    primers designed in the region flanking the deletion breakpoints can subsequently be used to facilitate carrier detection of uncommon deletions in family members or isolated populations in laboratories where no microarray technology or\n                    <jats:styled-content style=\"fixed-case\">MLPA<\/jats:styled-content>\n                    is available.\n                  <\/jats:p>","DOI":"10.1111\/ijlh.12108","type":"journal-article","created":{"date-parts":[[2013,5,31]],"date-time":"2013-05-31T02:12:38Z","timestamp":1369966358000},"page":"1-12","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies"],"prefix":"10.1111","volume":"36","author":[{"given":"C. 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