C. Carrier Screening
1. Autosomal Recessive Disorders
- Cystic Fibrosis (CFTR gene)
- Spinal Muscular Atrophy (SMN1 gene)
- Tay-Sachs Disease (HEXA gene)
- Sickle Cell Disease (HBB gene)
- Beta-thalassemia (HBB gene)
2. X-Linked Disorders
- Fragile X Syndrome (FMR1 gene)
- Duchenne Muscular Dystrophy (DMD gene)
- Hemophilia A (F8 gene)
- Hemophilia B (F9 gene)
- X-linked Adrenoleukodystrophy (ABCD1 gene)
3 ( A ). Ethnic-Specific Screening
Jewish Population:
- Canavan Disease
- Familial Dysautonomia
- Gaucher Disease
- Niemann-Pick Disease
- Bloom Syndrome
3 ( B ). African Population:
- Sickle Cell Disease
- Beta-thalassemia
- G6PD Deficiency
3 ( C ). Asian Population:
- Alpha-thalassemia
- Beta-thalassemia
- SMA