(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada
Christine Michaels-Igbokwe, Brenda McInnes, Karen V. MacDonald, Gillian Currie, Fadya Omar, Brittany Shewchuk, François P. Bernier, Deborah A. Marshall
Topics & Concepts
MedicineGenetic testingConfidence intervalPediatricsDiagnostic testRetrospective cohort studyCohortGenetic diagnosisGold standard (test)Internal medicineGeneticsGeneBiologyGenomics and Rare DiseasesBRCA gene mutations in cancerGenomic variations and chromosomal abnormalities