DNA analysis can reveal predisposition, diagnosis, or carrier status. Genetic testing examines chromosomes, genes, or gene products to detect variations associated with disease or traits. Methods range from single-gene sequencing to whole-genome analysis and chromosomal microarray.

Clinical reasons for testing include confirming a suspected diagnosis, guiding therapy, assessing reproductive risk, and screening newborns. Predictive testing identifies future risk in healthy individuals. Results may be positive, negative, or uncertain; interpretation requires clinical context.

Informed consent and genetic counseling are integral. Privacy, discrimination, and psychological impact are important considerations. As sequencing costs fall, testing is expanding into routine medical care, making accurate reporting and patient education more critical than ever.

• Analysis of DNA to detect genetic variation
• Used for diagnosis, prediction, and carrier screening
• Includes sequencing and chromosomal methods
• Requires careful interpretation and counseling