Identifying genetic variations often involves various genetic testing techniques. These include:
- Whole Exome Sequencing: Focuses on sequencing the protein-coding regions of the genome. - Whole Genome Sequencing: Sequences the entire genome to detect both coding and non-coding regions. - Targeted Gene Panels: Focus on specific genes known to be associated with particular conditions. - Chromosomal Microarray Analysis: Detects large-scale genetic changes such as copy number variations.