Comprehensive Family Genetic Test - Whole Exome Sequencing (WES), Duo

Next-Generation Sequencing (NGS) is an advanced genome sequencing technique that targets the sequence of all protein-coding regions (exomes) in the DNA of the patient (the affected child) and one of their parents (often both parents). The child's sequence is then compared to the parent's sequence to identify de novo, recessive, and dominant mutations associated with the disease. This dual approach provides an effective solution for identifying the causes of genetic diseases, particularly when the inheritance pattern is unclear.