Carrier Screening

Family Planning with Carrier Screening

Genetic disorders can vary from mild to severe. With the rapid advances in genetic technology, genetic testing has become a significant part of planning your pregnancy. Carrier screening can be an important step when building your family and can provide valuable information as you plan for your future.

What Does it Mean to be a Carrier?

Carriers of a genetic disorder are typically healthy individuals who show no sign of disease, yet possess a change in their genetic information. Carrier screening can identify carriers for different genetic conditions. Normal results reduce, but do not eliminate, your risk of being a carrier for the conditions screened. The conditions offered as a part of reproductive genetic carrier screening can be passed from parents to their offspring in one of two ways:

  • Autosomal recessive disorders: If both parents are carriers, there is a 25% chance of having a child with the disease.
  • X-linked disorders: If the woman is a carrier, there is up to a 50% chance of having a child with the disease.

Carrier Screening Options

At GenPath, multiple, different carrier screening options are available to accurately identify couples at risk of having a child with a genetic condition. Your provider or genetic counselor can help you decide which carrier screening options are right for you.

InheriGen Pan-Ethnic Carrier Screening

InheriGen performs carrier testing for multiple conditions at once, at a significantly lower cost than if each of these tests were run separately. Learn more about GenPath’s InheriGen carrier screening.

Ashkenazi Jewish Carrier Testing

Ashkenazi Jewish (AJ) carrier screening helps to identify carriers of hereditary genetic conditions that occur frequently in individuals with Eastern European (Ashkenazi) Jewish ancestry. Learn more about AJ carrier screening.

Cystic Fibrosis Carrier Testing

Cystic fibrosis is a genetic disease that affects the lungs, pancreas, gastrointestinal tract, and reproductive system. Learn more about GenPath’s cystic fibrosis carrier screening.

Spinal Muscular Atrophy Carrier Testing

Spinal muscular atrophy (SMA) is a disease that impacts voluntary movements like walking, talking, and swallowing. Learn more about SMA carrier screening.

Fragile X Carrier Testing

Fragile X syndrome is the most common cause of inherited intellectual disability. Learn more about Fragile X carrier screening.