Carrier Screen, Focused Panel

Use

This expanded carrier screening test is intended to assess reproductive risk for serious inherited conditions—such as alpha thalassemia, beta thalassemia, cystic fibrosis, fragile X syndrome, sickle cell anemia, and spinal muscular atrophy—by detecting select disease-associated variants in seven genes. It is specifically used for individuals who are pregnant or planning to become pregnant and their reproductive partner, and is not useful for clinical diagnosis of an affected individual. The test uses a targeted genotyping array, covering over 500 genetic targets, enabling carrier risk assessment but not diagnostic applications.