[{"command":"add_css","data":[{"rel":"stylesheet","media":"all","href":"\/core\/modules\/views\/css\/views.module.css?tdhib2"}]},{"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-740950376f26caa511fe8638ee0ae114426fdf74f5eff040161cc2c8f79c0889\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\nTBG or other protein binding defect\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=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n                  \u003Cth class=\u0022serum-tsh-mu-l\u0022\u003ESerum TSH mU\/L\u003C\/th\u003E\n                  \u003Cth class=\u0022serum-free-t4\u0022\u003ESerum Free T4\u003C\/th\u003E\n                  \u003Cth class=\u0022serum-total-t4\u0022\u003ESerum Total T4\u003C\/th\u003E\n                  \u003Cth class=\u0022other-studies\u0022\u003EOther studies\u003C\/th\u003E\n              \u003C\/tr\u003E\n    \u003C\/thead\u003E\n  \n      \u003Ctbody\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003Enormal\u003C\/td\u003E\n                      \u003Ctd class=\u0022serum-free-t4\u0022\u003ENormal for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022serum-total-t4\u0022\u003ELow for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022other-studies\u0022\u003ELow TBG\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003Enormal\u003C\/td\u003E\n                      \u003Ctd class=\u0022serum-free-t4\u0022\u003ENormal for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022serum-total-t4\u0022\u003ELow for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022other-studies\u0022\u003Eincreased T3 or T4 resin uptake\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\nTrifunctional protein deficiency (TFP) - inclusive of LCHAD\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=\u0022urine-organics\u0022\u003EUrine Organics\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              \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=\u0022urine-organics\u0022\u003EUntested or unknown\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 \n(Allele 1 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                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EUntested or unknown\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 LCHAD or TFP\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated: \n-C16-OH (on more than one specimen) and -C16:1-OH and \n-C18-OH and \n-C18:1-OH\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 \n(predicted to be pathogenic)]\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EElevated \n-C12-OH dicarboxylic and -C10-OH dicarboxylic\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated: \n-C16-OH (on more than one specimen)and -C16:1-OH and \n-C18-OH and \n-C18:1-OH\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                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated: \n-C16-OH (on more than one specimen) and -C16:1-OH and \n-C18-OH and \n-C18:1-OH\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                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated: \n-C16-OH (on more than one specimen) and -C16:1-OH and \n-C18-OH and \n-C18:1-OH\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                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated: \n-C16-OH (on more than one specimen) and -C16:1-OH and \n-C18-OH and \n-C18:1-OH\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                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated: \n-C16-OH (on more than one specimen) and -C16:1-OH and \n-C18-OH and \n-C18:1-OH\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                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EElevated \n-C12-OH dicarboxylic and -C10-OH dicarboxylic\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\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EElevated \n-C12-OH dicarboxylic and -C10-OH dicarboxylic\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\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                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated: \n-C16-OH (on more than one specimen)\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 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                  \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\nTyrosinemia, type I (TYR I)\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=\u0022urine-or-serum-studies\u0022\u003EUrine or Serum studies\u003C\/th\u003E\n                  \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n                  \u003Cth class=\u0022enzyme-studies\u0022\u003EEnzyme 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=\u0022urine-or-serum-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 known disease causing mutations in the same gene\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-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=\u0022urine-or-serum-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003EEnzyme analysis consistent with FAH enzyme deficiency\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=\u0022urine-or-serum-studies\u0022\u003EElevated Succinylacetone\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-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=\u0022urine-or-serum-studies\u0022\u003EElevated tyrosine and\nNormal Succinylacetone\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene - predicted to be pathogenic\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-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\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-studies\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003E\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=\u0022urine-or-serum-studies\u0022\u003EElevated tyrosine and\nNormal Succinylacetone\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-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=\u0022urine-or-serum-studies\u0022\u003EElevated tyrosine and\nNormal Succinylacetone\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-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}]