With the development of molecular genetics, now mechanisms lying under many diseases are detected, some methods are put into practice.

Genetic diseases are occurred by permanent changes on genetic structures. People have risks of conveying the genetic diseases to their children at different degrees. Defining the diseases at people are important in order to implement some strategies for having healthy generations.

Our medical center having awareness of the importance of genetic diseases, primarily single gene disorders, can diagnoses many genetic diseases written below.

• Beta-Thalassemia
• Sickle Cell Anemia
• Cystic Fibrosis
• Becker/Duchenne Muscular Dystrophy
• Spinal Muscular Atrophy
• Fragile X Syndrome
• α-1-Antitrypsin (AAT) Deficiency
• Achondroplasia & Hypocondroplasia
• Thanatophoric Dysplasia
• Rett Syndrome
• Charcot-Marie-Tooth Disease
• Sialidase (Neuraminidase)
• Familial Mediterranean Fever
• Hemochromatosis
• Congenital Deafness
• Osteoporosis (COL1A1/VDR/CTR/ESR)
• Factor II Prothrombin
• Factor V Leiden
• MTHFR
• ACTN3
• ApoE