Abstract
Genetic disorders account for more than 30% of infant deaths and more than 11% of pediatric hospital admissions in the United States and Canada. The development of genetic testing has enabled the diagnosis of genetic syndromes and the discovery of new rare diseases that particularly affect the pediatric population. The technical improvement and falling costs of genetic tests have allowed a radical change in the genetic practice, transitioning from conventional karyotyping and single-gene analysis to whole-genome approaches. This chapter provides an overview of the currently available clinical genetic and genomic testing, such as chromosomal microarray, conventional karyotype, FISH, single-gene sequencing, disease-targeted gene panels, whole-exome sequencing, whole-genome sequencing, and methylation analysis, among others. We describe their advantages and limitations and focus on their role in the medical care of pediatric patients.
Original language | English |
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Title of host publication | Biochemical and Molecular Basis of Pediatric Disease |
Publisher | Elsevier |
Pages | 15-36 |
Number of pages | 22 |
ISBN (Electronic) | 9780128179628 |
DOIs | |
State | Published - Jan 1 2021 |
Keywords
- Chromosomal microarray
- Conventional cytogenetics
- FISH
- Gene sequencing
- Genetic testing
- Pediatrics
- Whole-exome sequencing
- Whole-genome sequencing