{"id":357,"date":"2025-06-03T13:37:00","date_gmt":"2025-06-03T12:37:00","guid":{"rendered":"https:\/\/services.nhslothian.scot\/geneticservice\/repertoire-of-tests\/"},"modified":"2025-06-03T13:37:41","modified_gmt":"2025-06-03T12:37:41","slug":"repertoire-of-tests","status":"publish","type":"page","link":"https:\/\/services.nhslothian.scot\/geneticservice\/repertoire-of-tests\/","title":{"rendered":"Repertoire of tests"},"content":{"rendered":"\n<p><strong>Microarray Analysis for all Microdeletion\/Microduplication Syndromes<\/strong><\/p>\n\n\n\n<p>Including (but not limited to..)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>1p36&nbsp;<\/li>\n\n\n\n<li>2p16<\/li>\n\n\n\n<li>2q31.1<\/li>\n\n\n\n<li>3q29<\/li>\n\n\n\n<li>9q22.3<\/li>\n\n\n\n<li>9q34.3<\/li>\n\n\n\n<li>11q31.1<\/li>\n\n\n\n<li>15q24<\/li>\n\n\n\n<li>16p11.2<\/li>\n\n\n\n<li>16p13.3<\/li>\n\n\n\n<li>17p13.3<\/li>\n\n\n\n<li>17q21<\/li>\n\n\n\n<li>Angleman Syndrome<\/li>\n\n\n\n<li>Cri Du Chat Syndrome<\/li>\n\n\n\n<li>Di George Syndrome<\/li>\n\n\n\n<li>DiGeorge region 2 (10p15)<\/li>\n\n\n\n<li>Kallmann Syndrome<\/li>\n\n\n\n<li>Langer-Giedion Syndrome<\/li>\n\n\n\n<li>MECP2 duplication<\/li>\n\n\n\n<li>Miller Dieker Syndrome<\/li>\n\n\n\n<li>NF1<\/li>\n\n\n\n<li>Phelan-McDermid<\/li>\n\n\n\n<li>Prader-Willi Syndrome<\/li>\n\n\n\n<li>Retinoblastoma Syndrome<\/li>\n\n\n\n<li>Rubinstein-Taybi Syndrome<\/li>\n\n\n\n<li>Saethre-Chotzen Syndrome<\/li>\n\n\n\n<li>Smith Magenis Syndrome<\/li>\n\n\n\n<li>Sotos Syndrome<\/li>\n\n\n\n<li>SRY<\/li>\n\n\n\n<li>Steroid Sulfatase<\/li>\n\n\n\n<li>WAGR<\/li>\n\n\n\n<li>Williams Syndrome<\/li>\n\n\n\n<li>Wolf \u2013Hirschhorn Syndrome<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\" \/>\n\n\n\n<p><strong>&nbsp; Karyotyping<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Chromosome analysis (G-band)<\/li>\n\n\n\n<li>Chromosome Painting (FISH)<\/li>\n\n\n\n<li>Centromere Probes (FISH)<\/li>\n\n\n\n<li>Telomere Probes (FISH)<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\" \/>\n\n\n\n<p><strong>&nbsp;FISH Probes<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dual fusion, break-apart and enumeration probes for various haematological conditions (for example BCR\/ABL, KTM2A etc)<\/li>\n<\/ul>\n\n\n\n<p>Please consult the laboratory on 0131 537 (3)2985<\/p>\n\n\n\n<p>Note:&nbsp;FISH probes may be used past their recommended use before date, but will be fully verified before use.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\" \/>\n\n\n\n<p><strong>&nbsp; QF-PCR<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Rapid Trisomy<\/li>\n\n\n\n<li>Y microdeletions<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Microarray Analysis for all Microdeletion\/Microduplication Syndromes Including (but not limited to..) &nbsp; Karyotyping &nbsp;FISH Probes Please consult the laboratory on 0131 537 (3)2985 Note:&nbsp;FISH probes may be used past their recommended use before date, but will be fully verified before use. &nbsp; QF-PCR<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":37,"comment_status":"closed","ping_status":"closed","template":"page-templates\/widewidth.php","meta":{"footnotes":""},"categories":[],"class_list":["post-357","page","type-page","status-publish","hentry"],"rttpg_featured_image_url":null,"rttpg_author":{"display_name":"NHS Lothian","author_link":"https:\/\/services.nhslothian.scot\/geneticservice\/author\/nhs-lothian\/"},"rttpg_comment":0,"rttpg_category":false,"rttpg_excerpt":"Microarray Analysis for all Microdeletion\/Microduplication Syndromes Including (but not limited to..) &nbsp; Karyotyping &nbsp;FISH Probes Please consult the laboratory on 0131 537 (3)2985 Note:&nbsp;FISH probes may be used past their recommended use before date, but will be fully verified before use. &nbsp; QF-PCR","_links":{"self":[{"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/pages\/357","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/comments?post=357"}],"version-history":[{"count":3,"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/pages\/357\/revisions"}],"predecessor-version":[{"id":1351,"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/pages\/357\/revisions\/1351"}],"wp:attachment":[{"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/media?parent=357"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/services.nhslothian.scot\/geneticservice\/wp-json\/wp\/v2\/categories?post=357"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}