Mayo Clinic Laboratories > Genetics > Prenatal > Carrier screening

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.

1 in 31

1 in 31 Americans is a symptomless carrier for cystic fibrosis1

1 in 6k-10k

1 in 6K–10k babies worldwide are born with spinal muscular atrophy2

1 in 40-50

1 in 40–50 people are carriers of spinal muscular atrophy 2

4 in 10k

4 in 10k babies globally are born with thalassemia3

Carrier screening Test menu

Panel testing Panel testing
Single disorder testing Single disorder testing

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

Highlights

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.

Learn more

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

  • ATHAL | Alpha-Globin Gene Analysis, Varies
    • Determines an individual’s number of alpha-globin chains to identify carriers of alpha-thalassemia; this deletion/duplication technology has a 90% sensitivity for identifying causative variants in this gene.
    • If clinically indicated, order Mayo ID: WASEQ/Alpha Globin Gene Sequencing, Varies for detection of single point and other nondeletion variants.
  • 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.
References
  1. SMA Foundation | About SMA
  2. Prevalence, Incidence, Trend, and Complications of Thalassemia in Iraq - PubMed (nih.gov)
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