[{"command":"add_css","data":[{"rel":"stylesheet","media":"all","href":"\/core\/modules\/views\/css\/views.module.css?sw9e1i"}]},{"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-9e410c6472266387536c93131da0200873fccb7bcadcde95bd8417ea9345ed28\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\nPompe Disease\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=\u0022disorder\u0022\u003EDisorder\u003C\/th\u003E\n \u003Cth class=\u0022mutation-status\u0022\u003EMutation Status\u003C\/th\u003E\n \u003Cth class=\u0022blood-not-dbs-sample\u0022\u003EBlood (not DBS sample)\u003C\/th\u003E\n \u003Cth class=\u0022skin-muscle-testing\u0022\u003ESkin\/Muscle testing\u003C\/th\u003E\n \u003Cth class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ECardiac Involvement consistent with Pompe\u003C\/th\u003E\n \u003Cth class=\u0022lab-findings\u0022\u003ELab Findings\u003C\/th\u003E\n \u003Cth class=\u0022clinical-findings\u0022\u003EClinical Findings\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=\u0022disorder\u0022\u003EInfantile Onset Pompe Disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with infantile onset\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for infantile onset (IO)\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003ENot done or positive skin or muscle bx\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003EPositive findings on Chest X-ray\/EKG\/ECHO in newborn period\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EUnknown\/ Not Done\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003EInfantile Onset Pompe Disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EUnknown or not done\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for IO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003ENot done or positive skin or muscle bx\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003EPositive findings on Chest X-ray\/EKG\/ECHO in newborn period\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003EInfantile Onset Pompe Disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic and associated with infantile onset, 1 novel variant that is likely pathogenic\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for IO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003ENot done or positive skin or muscle bx\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003EPositive findings on Chest X-ray\/EKG\/ECHO in newborn period\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003EInfantile Onset Pompe Disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with infantile onset\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for IO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003ENot done or positive skin or muscle bx\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003EPositive findings on Chest X-ray\/EKG\/ECHO in newborn period\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003EInfantile Onset Pompe Disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003E1 pathogenic* or likely pathogenic variant, with deletion or duplication consistent with infantile onset\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for IO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003ENot done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003EPositive findings on Chest X-ray\/EKG\/ECHO in newborn period\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003EInfantile Onset Pompe Disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003ELow (above affected range, for IO, may or may not be in late-onset (LO) range but should not be above LO range)\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EPositive skin or muscle bx\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003EPositive findings on Chest X-ray\/EKG\/ECHO in newborn period\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003EInfantile Onset Pompe Disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for IO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003EPositive findings on Chest X-ray\/EKG\/ECHO\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EUnknown\/ Not Done\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003EInfantile Onset Pompe Disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003E1 pathogenic* or likely pathogenic variant, no other variants found, dup\/del testing not done or not known\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for IO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003EPositive findings on Chest X-ray\/EKG\/ECHO\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003ELate Onset Pompe disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for LO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ENo\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003ESymptoms present after 1 year of age and documented by specialists. PH program continued to collect data through the development of symptoms**\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003ELate Onset Pompe disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for LO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ENo\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003ESymptoms present before 1 year of age but no cardiac involvement\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003ELate Onset Pompe disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for LO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ENo\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003EUnknown or not reported to PH to program by the end of follow-up\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003ELate Onset Pompe disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with infantile onset and Allele 2 - pathogenic*\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003ELow (above affected range, for LO not normal)\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ENo\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003ELate Onset Pompe disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with infantile onset, no other variants detected; Duplication\/deletion testing not completed or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for LO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ENo\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003ELate Onset Pompe disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with infantile onset, no other variants detected; Duplication\/deletion testing not completed or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range for LO\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ENo\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003ESymptoms present after 1 year of age and documented by specialists. PH program continued to collect data through the development of symptoms**\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003ELate Onset Pompe disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003E1 pathogenic* or likely pathogenic variant, no other variants found\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ENo\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003EElevated CK\/AST\/ALT\/LDH\/Urine Hex4\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003ELate Onset Pompe disease\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003E2 pathogenic* or likely pathogenic variant, no other variants found\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003EUnknown\/ not done\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003ENo\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003E*Pathogenic: classified as pathogenic or likely pathogenic by ACMG Guidelines (2015)\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003E** Clinical symptoms consistent with Pompe Disease: progressive muscle weakness, need for respiratory assistance, swaying gait or waddle, Lordosis, kyphosis, or scoliosis\u003C\/td\u003E\n \u003Ctd class=\u0022disorder\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-status\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022blood-not-dbs-sample\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022skin-muscle-testing\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022cardiac-involvement-consistent-with-pompe\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022lab-findings\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-findings\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\nPrimary congenital hypothyroidism (CH)\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-total-or-free-t4\u0022\u003ESerum Total or Free T4*\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\u003ETSH \u0026gt; 10\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003E\u0026lt; age established reference range\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003ETSH \u0026gt; 10\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003Enormal T4\/total T4\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003ETSH \u0026gt; 10\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible**\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003ETSH 6-10\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003E\u0026lt; age established reference range\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible **\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003ETSH 6-10\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003ENormal\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible **\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003ETSH 6-10\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EIncomplete\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EIncomplete\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003E\u0026lt; age established reference\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E* The results referenced should be obtained before the initiation of therapy.\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E** Since there can be overlap in these 2 categories (possible primary or probable secondary congenital hypothyroidism) based on the laboratory values, the treating clinician should determine which category.\u003C\/td\u003E\n \u003Ctd class=\u0022serum-tsh-mu-l\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022serum-total-or-free-t4\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\nPropionic acidemia (PROP)\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-organic-acids\u0022\u003EUrine organic acids\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 \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-organic-acids\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 (Allele 1 - variant known to be disease causing and Allele 2 - variant known to be disease causing)\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022urine-organic-acids\u0022\u003EPresence of \n--methylcitrate and \n- +\/-3OH propionic acid, propionyl glycine, \n-tiglyglycine and Absence of: \n-MMA and \n- methylcrotonyl glycine\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\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-organic-acids\u0022\u003EPresence of \n-3-OH propionic and Absence of: \n-MMA and -methylcrotonyl glycine\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\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 - variant of unknown significance (predicted to be pathogenic)]\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022urine-organic-acids\u0022\u003EPresence of \n-3-OH propionic and Absence of: \n-MMA and -methylcrotonyl glycine\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\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-organic-acids\u0022\u003EPresence of \n-3-OH propionic and Absence of: \n-MMA and -methylcrotonyl glycine\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\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 - variant of unknown significance)\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022urine-organic-acids\u0022\u003EPresence of \n-3-OH propionic and Absence of: \n-MMA and -methylcrotonyl glycine\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\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 \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022urine-organic-acids\u0022\u003EAbsence of -MMA and -methylcrotonyl glycine\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\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 - variant of unknown significance)\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}]