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Genome-wide sequencing for unexplained developmental delays and multiple congenital anomalies a rapid qualitative review

About one half of people living with congenital anomalies have not had a specific cause or diagnosis identified based on their clinical presentation or examination of environmental causes. Such individuals are given a label of "unexplained developmental delay", and it is not uncommon for t...

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Bibliographic Details
Main Author: Herington, Elijah
Corporate Author: Canadian Agency for Drugs and Technologies in Health Rapid Response Service
Other Authors: McCormack, Suzanne
Format: eBook
Language:English
Published: Ottawa CADTH May 16, 2019, 2019
Edition:Version 1.0
Series:CADTH rapid response report: summary with critical appraisal
Subjects:
Developmental Disabilities / Genetics
Child
Congenital Abnormalities / Genetics
Whole Genome Sequencing
Patient Satisfaction
Online Access:
Collection: National Center for Biotechnology Information - Collection details see MPG.ReNa
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520 |a About one half of people living with congenital anomalies have not had a specific cause or diagnosis identified based on their clinical presentation or examination of environmental causes. Such individuals are given a label of "unexplained developmental delay", and it is not uncommon for them to be subjected to multiple diagnostic tests venturing on what some refer to as the 'diagnostic odyssey'. Genetic sequencing has the potential to alleviate these diagnostic odysseys and provide definitive diagnoses otherwise undetectable by clinical history, physical examination, and biochemical or metabolic tests, or to do so sooner than current practice 

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