Carrier Screening


Test in Focus

Mayo Clinic Laboratories’ carrier screening panels use targeted genotyping to evaluate for variations in genes associated with the most common, potentially lethal hereditary conditions. In this "Test in Focus" episode of the "Answers From the Lab" podcast, Linda Hasadsri, M.D., Ph.D., discusses how our three panels can provide expectant parents with information that clarifies reproductive risks and can help guide decision-making.

Comprised of genes associated with cystic fibrosis (CF), spinal muscular atrophy (SMA), and hemoglobinopathies, including sickle cell anemia and thalassemia, our carrier screening panels were designed to provide comprehensive coverage while being inclusive and accessible to all patients.

“Testing for these conditions is not new to Mayo Clinic – we have two to three decades of experience for all of the disorders on the focused panel and are considered experts in the field,” says Dr. Hasadsri. “We have streamlined the provider ordering experience to alleviate the stress of needing to order multiple tests to get to the same results. And also quicker turnaround times in most cases, too, because it’s a single chemistry handing all of those disorders.”

Listen to learn more about how our expert-backed carrier screening, which is recommended for all pregnant women and those considering pregnancy, can deliver fast, accurate answers that provide parents peace of mind and a deeper understanding of next steps.

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Testing

Useful information

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

  • Confirmation of a clinical diagnosis of cystic fibrosis
  • Reproductive risk refinement via carrier screening for individuals in the general population
  • Reproductive risk refinement via carrier screening for individuals with a family history when familial variants are not available
  • Identification of patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy

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

  • Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis and spinal muscular atrophy
  • Reproductive risk refinement via carrier screening for individuals with a family history of cystic fibrosis and/or spinal muscular atrophy when familial variants are not available
  • This test is not useful for clinical diagnosis of an affected individual

CSFP | Carrier Screen, Focused Panel, Varies

  • Expanded carrier screening for reproductive risk assessment purposes
  • This test is not useful for clinical diagnosis of an affected individual

Specimen requirements

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

If there is a family history of cystic fibrosis, the known variant in the family should be supplied for best interpretation of results.

  • Specimen Type: Whole blood
  • Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Preferred: 

  • Lavender top (EDTA) or yellow top (ACD)

Acceptable:

  • Any anticoagulant
  • Specimen Volume: 3 mL
  • Collection Instructions:
    1. Invert several times to mix blood.
    2. Send whole blood specimen in original tube. Do not aliquot.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

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

  • Specimen Type: Whole blood
  • Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Preferred: 

  • Lavender top (EDTA) or yellow top (ACD)

Acceptable:

  • Any anticoagulant
  • Specimen Volume: 3 mL
  • Collection Instructions:
    1. Invert several times to mix blood.
    2. Send whole blood specimen in original tube. Do not aliquot.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

CSFP | Carrier Screen, Focused Panel, Varies

  • Specimen Type: Whole blood
  • Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Preferred: 

  • Lavender top (EDTA) or yellow top (ACD)

Acceptable:

  • Any anticoagulant
  • Specimen Volume: 3 mL
  • Collection Instructions:
    1. Invert several times to mix blood.
    2. Send whole blood specimen in original tube. Do not aliquot.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

Performance information

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

Analytic time: 7 to 21 days

Days performed: Tuesday, Saturday

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

Analytic time: 7 to 21 days

Days performed: Thursday, Sunday

CSFP | Carrier Screen, Focused Panel, Varies

Analytic time: 7 to 21 days

Days performed: Thursday, Sunday

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Robin Huiras-Carlson (@robinh)

Robin Huiras-Carlson

Robin Huiras-Carlson is a senior marketing specialist at Mayo Clinic Laboratories and a Mayo Clinic employee since 2015. Her writing focuses on specialty testing, innovation, and patient-focused initiatives.