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Genome-wide sequencing for unexplained developmental delays and multiple congenital anomalies : a rapid qualitative review / Elijah Herington, Suzanne McCormack.
- Format:
- Book
- Author/Creator:
- Herington, Elijah, author.
- McCormack, Suzanne, author.
- Series:
- Rapid response report (Canadian Agency for Drugs and Technologies in Health)
- Language:
- English
- Subjects (All):
- Abnormalities, Human--Genetic aspects.
- Abnormalities, Human.
- Physical Description:
- 1 online resource (23 pages) : illustrations.
- Edition:
- First edition.
- Place of Publication:
- Ottawa : CADTH, 2019.
- 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.
- Notes:
- Description based on publisher supplied metadata and other sources.
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