Carrier screening
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 for having a child with certain genetic disorders.
Carrier screening Test menu
Panel testing
Mayo Clinic Laboratories offers two carrier screening panels that test for the most common inherited disorders: cystic fibrosis (CF), spinal muscular atrophy (SMA), Fragile X syndrome, and hemoglobinopathies.
Key testing
- 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.
Highlights
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.
Single disorder testing
For family members or reproductive partners of known carriers of common conditions, carrier screening testing can help inform medical decision-making and family planning.
Key testing
- AGDD | Alpha Globin Cluster Locus Deletion/Duplication, Varies
- 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.
- FXS | Fragile X Syndrome, Molecular Analysis, Varies
- Determines number of CGG trinucleotide repeats in the 5’ UTR of the FMR1 gene located on the X chromosome.
- HBEL1 | Hemoglobin Electrophoresis Evaluation, Blood
- Identifies carriers of beta-thalassemia and hemoglobin variants, such as sickle cell, by evaluating hemoglobin (Hb) A2, HbF, and performing hemoglobin electrophoresis.
- Depending on the results of protein testing, molecular testing may be added at an additional charge to further characterize abnormalities. A comprehensive interpretation will be provided when the results are complete.
- SMNCS | Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies
- Determines SMN1 exon 7 copy number and SMN2 exon 7 copy number.
- Ascertains whether the g.27134T>G polymorphism is present or absent in patients found to have two copies of SMN1.