Diagnosing genetic diseases requires a systematic integration of clinical evaluation, molecular testing, and bioinformatic analysis to identify pathogenic variants responsible for inherited conditions. The core workflow begins with patient phenotyping and family history assessment, followed by selection of the appropriate genomic test (single-gene, panel, exome, or genome sequencing), variant interpretation using established clinical guidelines, and collaborative confirmation through multidisciplinary review. While technological advances have shortened turnaround times to weeks rather than months, the process demands rigorous attention to …
