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Beaumont Laboratory

Cystic Fibrosis Mutation Analysis

Cystic Fibrosis, Carrier Screen, Cystic Fibrosis, Carrier Testing, Cystic Fibrosis Carrier Screening, EPIC: LAB6379, SOFT: GCFG


Carrier screening for Cystic Fibrosis is available to outpatients only. For questions, please call 800-551-0488.

Specimen Collection Criteria

Collect: One 10 mL whole blood in Lavender-top EDTA tube. (Min: 5.0 mL)


Interpretive results of this test are based on the patient’s ethnicity and family history of cystic fibrosis.  A form to document this information can be printed from the following link:


Results cannot be released without the following:

  1. Patient ethnicity (European Caucasian, Ashkenazi Jewish, African American, Hispanic American, Asian American or other and mixed ethnicity).
  2. Family history (positive or negative for cystic fibrosis).

This test has only been validated for screening purposes.  Requests from patients suspected of carrying any known cystic fibrosis mutation will be sent out for expanded panel testing.  The following information is also required:

  1. Indication for performing the test (carrier screening or diagnostic).

Physician Office/Drawsite Specimen Preparation

Do not freeze specimens. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport.

Preparation for Courier Transport

Transport: Whole blood at room temperature (20-26°C or 68-78.8°F). (Min: 5.0 mL whole blood)

Rejection Criteria

  • Frozen specimens.
  • Unlabeled tubes.
  • Specimens collected in heparin (Green-top), clot tubes (Red-top), or SST tubes.
  • Specimens that are not accompanied with the necessary patient information will be tested only after obtaining the required additional information.
  • This test will only be performed once in a lifetime for a patient.


Specimen Stability for Testing:

Whole Blood
Room Temperature (20-26°C or 68-78.8°F): 72 hours
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Refrigerated (2-8°C or 36-46°F): 7 days

Extracted DNA may be available for additional testing if clinically indicated. Contact the Molecular Pathology Laboratory for verification.


Royal Oak Clinical Molecular Pathology Laboratory.


Once per week.
Results available in 7-10 days.

Reference Range

Negative for the mutations analyzed. An interpretive report will be issued that will include a reduced risk analysis for individuals testing negative for the 39+4 mutations analyzed.

Test Methodology

Multiplex Polymerase Chain Reaction (PCR), Allele Specific Primer Extension (ASPE) and Tag Sorting using the Luminex 100/200xMAPTM platform.


  • Cystic Fibrosis (CF) is one of the most common severe autosomal recessive diseases, affecting approximately 1 in 3,300 people in the United States. Symptoms result from the accumulation in the lungs and pancreas of thick mucus leading to pneumonia and malabsorption. Eighty five percent of CF patients have both pulmonary and pancreatic disease, while 15% have only the pulmonary component. Several "mild phenotypes" have recently been described, including pancreatitis and male infertility. The median survival age is 29.4 years, but the life span of children born with CF today is expected to be longer.
  • To date, more than 1200 mutations within the gene causing cystic fibrosis have been identified. This test detects the 25 mutations and 4 variants initially recommended by the American College of Medical Genetics (ACGMG) and the American College of Obstetricians and Gynecologists (ACOG), plus an additional 14 mutations. These additional mutations are prevalent in North America as well as the rest of the world, making this a multi-ethnic standard screening panel. Because of this, a negative result cannot rule out that an individual may still be a carrier of a mutation not included in this test.

    Ethnic Background Carrier Risk
    prior to testing
    Carrier Risk after a negative result
    and a negative family history.
    European Caucasian 1/25 1/267
    Ashkenazi Jewish 1/25 1/800
    Hispanic American 1/46 1/108
    African American 1/62 1/229
    Asian American 1/90  Unknown

  • For a list of the mutations screened for using this assay, please contact the Royal Oak Clinical Molecular Pathology Laboratory.

Clinical Utility

  • This is a carrier screening test. For diagnostic test of affected children and for prenatal diagnosis, samples will continue to be sent to the reference laboratory Genzyme.
  • The panethnic CF panel is recommended by ACOG (American College of Obstetricians and Gynecologists) and ACMG (American College of Medical Genetics), for all couples seeking prenatal or preconception care.

CPT Code


Test Codes


Last Updated


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This directory currently reflects information only for specimens collected and/or processed at the Farmington Hills, Grosse Pointe, Royal Oak, and Troy campuses.