Genetic diseases represent a major challenge in healthcare, as they result from mutations or changes in genetic material (DNA). With the remarkable advancement in medical biotechnologies, it has become possible to detect these mutations at an early stage with high accuracy. This early detection helps in diagnosing genetic diseases promptly and in developing appropriate therapeutic or preventive strategies. 1. Polymerase Chain Reaction (PCR) This technique is used to amplify specific DNA segments to detect disease-causing mutations, such as those responsible for sickle cell anemia. 2. Whole Genome Sequencing (WGS) This method enables the complete reading of the genetic code and the identification of genetic variations responsible for diseases such as hereditary muscular dystrophy. 3. Fluorescence In Situ Hybridization (FISH) This technique is used to detect chromosomal abnormalities, such as deletions or duplications of chromosomes, as seen in Down syndrome. 4. The Role of Artificial Intelligence in Diagnosis Artificial intelligence is increasingly integrated with genetic data to accelerate analysis and assist in selecting the most appropriate treatment for each patient. Molecular diagnosis has fundamentally transformed the concept of detecting genetic diseases by providing accurate and rapid tools that help physicians identify the genetic causes of diseases and deliver targeted therapies. With continuous advancements, this field is expected to play a significant role in enhancing personalized medicine and improving patients’ quality of life. Al-Mustaqbal University – The First University in Iraq.