genomic testing

What Types of Genomic Testing are Used?

Several types of genomic testing are employed in neonates, including:
Whole Exome Sequencing (WES): Focuses on sequencing the protein-coding regions of genes.
Whole Genome Sequencing (WGS): Provides a comprehensive analysis of the entire genome.
Chromosomal Microarray: Detects chromosomal abnormalities that may not be visible under a microscope.
Targeted Gene Panels: Analyze specific sets of genes associated with particular disorders.

Frequently asked queries:

What is Genomic Testing?
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