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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| Format: | eBook |
| Language: | English |
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Ottawa
CADTH
May 16, 2019, 2019
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| Edition: | Version 1.0 |
| Series: | CADTH rapid response report: summary with critical appraisal
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| Collection: | National Center for Biotechnology Information - Collection details see MPG.ReNa |
| Summary: | 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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| Physical Description: | 1 PDF file (23 pages) illustrations |