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
CFSMN | Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies
CSFP | Carrier Screen, Focused Panel, Varies
Carrier Screening
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.
Experienced clinical support
Mayo Clinic Laboratories experts are available to discuss appropriate test ordering and results interpretation.
References