identify genetic mutations

How are Genetic Mutations Detected?

Genetic mutations can be detected through various methods, including:
Newborn Screening: Performed shortly after birth to identify certain genetic disorders early on.
Chromosomal Microarray Analysis (CMA): Detects chromosomal abnormalities such as deletions or duplications.
Whole Exome Sequencing (WES): Focuses on sequencing the exons, which are the coding regions of genes.
Whole Genome Sequencing (WGS): Provides a comprehensive analysis of the entire genome.
Targeted Gene Panels: Tests for mutations in a specific set of genes associated with particular conditions.

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