genetic testing
Genetic testing is, in essence, reading a chosen passage of a person’s DNA to look for a specific spelling difference. Just as you might check one paragraph of a long document for a known typo, a test examines a gene, a panel of genes, or even the whole genome to find variants linked to disease or traits.
Tests come in many forms: targeted analysis of a single known mutation, panels covering many genes at once, chromosomal studies, and broad sequencing of the exome or entire genome. The right choice depends on the clinical question — confirming a suspected diagnosis, checking carrier status, or screening for risk before symptoms appear.
A crucial caveat is interpretation. Finding a variant is only the start; deciding whether it is harmful, benign, or of uncertain significance requires careful analysis and good clinical context. A result is rarely a simple yes or no, which is why testing is usually paired with counseling.
A panel sequencing CFTR finds two known pathogenic variants in a child with recurrent lung infections, confirming cystic fibrosis.
Targeted testing turns a clinical suspicion into a molecular diagnosis.