Individualized insights for expectant parents

Comprehensive, inclusive screening for genetic variation

For prospective and expectant parents, identifying if their children might be at risk for a genetic condition is important for informed decision-making. Carrier screening, which is performed before pregnancy or within the first few weeks of pregnancy, can provide parents with a personalized risk assessment on having a child with certain genetic disorders.

Mayo Clinic Laboratories offers three carrier screening panels that test for the most common inherited disorders: cystic fibrosis (CF), spinal muscular atrophy (SMA), Fragile X syndrome, and hemoglobinopathies.

Results that matter

We're dedicated to our patients' health and well-being,
and proud of the outstanding outcomes we achieve.

1 in 31

Americans is a symptomless carrier for cystic fibrosis1

1 in 6-10k

babies worldwide are born with spinal muscular atrophy2

1 in 40-50

people are carriers of spinal muscular atrophy 2

4 in 10k

babies globally are born with thalassemia3

Comprehensive testing for a diversifying population

Our CF mutation panel, combined CF and SMA panel, and focused carrier screening panel, which consists of tests for four common hereditary disorders, provide meaningful results to guide pregnancy decisions and management. Because we understand the anxiety patients experience while awaiting results, our evaluations were developed to provide answers in just a few weeks.

Key testing

CFMP | Cystic Fibrosis, CFTR Gene, Variant Panel, Varies

  • Screens for more than 500 genetic variants in the CFTR gene, including the most common variants associated with cystic fibrosis (CF).
  • Able to detect CFTR deletions and duplications.

CFSMN | Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies

  • Screens for more than 500 genetic variants in the CFTR gene, including the most common variants associated with CF, as well as SMN1 copy number for spinal muscular atrophy (SMA).

CSFP | Carrier Screen, Focused Panel, Varies

  • Screens for CF, SMA, Fragile X syndrome, and hemoglobinopathies, including alpha thalassemia and sickle cell anemia.

A Test in Focus

Linda Hasadsri, M.D., Ph.D., explains carrier screening at Mayo Clinic Laboratories. Using targeted genotyping, our three focused panels evaluate genes associated with cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, to provide clear answers on reproductive risks and to guide decision-making.

Learn more

Experienced clinical support

Mayo Clinic Laboratories experts are available to discuss appropriate test ordering and results interpretation.

Learn more about how to order these evaluations at your institution.

References

  1. Cystic Fibrosis Carrier: What You Should Know (healthline.com)
  2. SMA Foundation | About SMA
  3. Prevalence, Incidence, Trend, and Complications of Thalassemia in Iraq - PubMed (nih.gov)