Molecular Genetics

• Single gene disorders

      - β-Thalassemia
      - Sickle Cell Anemia
      - Cystic Fibrosis
      - Spinal Muscular Atrophy
      - Duchenne/Becker Muscular Dystrophy (DMD/BMD)
      - Hemophilia etc.

• HLA Typing
• HLA Typing + Single gene disorders

Molecular Cytogenetics (FISH)

• Aneuplody screening - Panel I (13,16,18,21,22 or 13,18,21,X,Y)
• Anöploidi screening - Panel II (13,16,18,21,22,X,Y)
• Anöploidi screening - Panel III (13,15,16,17,18,21,22,X,Y)
• FISH analysis with specific probes in translocation carriers
• FISH analysis with specific probes in marker chromosome carriers
• FISH analysis with specific probes in inversion carriers
• FISH analysis with specific probes for X-linked disease