Carrier Screening Basic

Tiriamų ligų sąrašas

• Alpha-thalassemia (genes HBA1,HBA2)
• Beta-thalassemia (gene HBB)
• Cystic fibrosis (gene CFTR)
• Galactosemia (gene GALT)
• Duchenne muscular dystrophy (X-linked, gene DMD)
• Fanconi anemia (gene FANCC)
• Tay-Sachs disease (gene HEXA)
• Familial dysautonomia (gene IKBKAP)
• Gaucher disease (gene GBA)
• Deficit of medium-chain acyl-CoA dehydrogenase (gene ACADM)
• Mucolipidosis Type IV (gene MCOLN1)
• Niemann-Pick disease, types A / B (gene SMPD1)
• Phenylketonuria (gene PAH)
• Sickle cell anemia (gene HBB)
• Spinal muscular atrophy (SMA) (genes SMN1, SMN2)
• Smith-Lemli-Opitz Syndrome (gene DHCR7)
• Bloom syndrome (gene BLM)
• Canavan disease (gene ASPA)
• X-Fragile (X-Linked, gene FMR1)