[{"command":"add_css","data":[{"rel":"stylesheet","media":"all","href":"\/core\/modules\/views\/css\/views.module.css?std6bx"}]},{"command":"insert","method":"replaceWith","selector":"#case-definition-glossary-wrapper","data":"\u003Cdiv id=\u0022case-definition-glossary-wrapper\u0022\u003E\u003Cdiv class=\u0022accordion-multilevel case-definition-a-z js-view-dom-id-3991588abb296ec678c393eaa3b41abe44dbd2b94480ab061b602882a2830757\u0022\u003E\n \n \n \n\n \n \n \n\n \u003Cdiv class=\u0022views-view-grid horizontal cols-400000 clearfix\u0022\u003E\n \u003Cdiv class=\u0022case-definitions\u0022\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nVariant galactosemia\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022classification\u0022\u003EClassification\u003C\/th\u003E\n \u003Cth class=\u0022galt-levels\u0022\u003EGALT Levels\u003C\/th\u003E\n \u003Cth class=\u0022gal-1-p-level\u0022\u003EGal-1-P level\u003C\/th\u003E\n \u003Cth class=\u0022urine-galactitol\u0022\u003EUrine Galactitol\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022protein-phenotyping\u0022\u003EProtein phenotyping\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known classic galactosemia disease causing mutation and 1 known variant galactosemia mutation\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite-\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E10%-30%\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003EElevated\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation and 1 mutation of uncertain significance- predicted to be pathogenic\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E10%-30%\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003EElevated\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation and 1 mutation of uncertain significance- predicted to be pathogenic\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E10%-30%\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003EElevated\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003Ephenotype consistent with variant\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E10%-30%\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003EElevated\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003Ephenotype consistent with variant\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E10%-30%\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003EElevated\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation and 1 mutation of uncertain significance\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E10%-30%\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003EElevated\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation and 1 mutation of uncertain significance\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E10%-30%\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003Ephenotype consistent with variant\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022galt-levels\u0022\u003E10%-30%\u003C\/td\u003E\n \u003Ctd class=\u0022gal-1-p-level\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022urine-galactitol\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022protein-phenotyping\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nVery long-chain acyl-CoA dehydrogenase deficiency (VLCAD)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022classification\u0022\u003EClassification\u003C\/th\u003E\n \u003Cth class=\u0022plasma-acylcarnitines\u0022\u003EPlasma Acylcarnitines\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022functional-studies\u0022\u003EFunctional Studies\u003C\/th\u003E\n \u003Cth\u003E\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 known disease causing variants in the same gene (Allele 1 \u2013 variant known to be disease causing and Allele 2 \u2013 variant known to be disease causing)\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EFunctional fibroblast or Enzyme analysis consistent with VLCAD\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample) and -C14:2 and -C14\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample)\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 \u2013 variant of unknown significance (predicted to be pathogenic)]\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample) and -C14:2\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 \u2013 variant of unknown significance)\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample)\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 \u2013 variant of unknown significance)\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample) and -C14:2\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing variant (Allele 1 - variant known to be disease causing)\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample) and -C14:3\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample) and -C14:4\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ENo variants found\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample)\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample)\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ENo variants found\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated -C14:1 (on more than one sample)\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing variant (Allele 1 - variant known to be disease causing)\u003C\/td\u003E\n \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003C\/div\u003E\n \u003C\/div\u003E\n\n \n \n \n \n\u003C\/div\u003E\n\u003C\/div\u003E","settings":null}]