After sample collection, DNA is extracted and either targeted regions (specific genes) or the entire genome/exome is sequenced. The resulting data is compared against reference genetic databases to identify variants. These variants are then classified into pathogenic, likely pathogenic, benign, likely benign, or of uncertain significance (VUS) — based on established clinical and scientific guidelines. A geneticist or genetic counselor then interprets these findings in the context of the patient’s personal and family history before sharing results.