genetic screening

Introduction

Targeted mutation panels (ethnicity-based)

• cystic fibrosis (CF)
• spinal muscular atrophy (SMA)
• fragile X (FMR1)
• hemoglobinopathies (HBA1 & HBA2)
  • screen for hemoglobinopathies/thalassemia
• Ashkenazi Jewish diseases (Bloom syndrome, Canavan disease, familial dysautonomia, Tay-Sachs disease)

More general terms

• screening

Additional terms

• genetic counseling
• genetic disease