Cystic Fibrosis (CF) Profile, 97 Mutations, CFplus®, Fetal Analysis

TEST: 480819
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CPT: 81220
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Synonyms

  • CF Carrier
  • CF Testing

Test Includes

Testing for 97 cystic fibrosis mutations, including all of the mutations currently recommended by the ACMG and ACOG

Special Instructions

A completed screening questionnaire must accompany specimens. Call 800-345-4363 to request forms, or photocopy the Cystic Fibrosis Screening Questionnaire from the Genetics Appendix online.

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.

Expected Turnaround Time

8 - 10 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

    Specimen Requirements

    Specimen

    Amniotic fluid or chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.)

    Volume

    10 mL amniotic fluid or 20 mg CVS

    Minimum Volume

    5 mL amniotic fluid or 10 mg CVS

    Container

    Sterile plastic conical tube or two confluent T-25 flasks for fetal testing

    Storage Instructions

    Maintain specimen at room temperature or refrigerate at 4°C

    Causes for Rejection

    Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container

    Test Details

    Use

    LabCorp offers an expanded mutation profile of 97 mutations for cystic fibrosis for prenatal testing, diagnostic testing, and for testing in those individuals whose family history or ethnicity requires testing for less common mutations.

    Cystic fibrosis (OMIM 602421) is a common genetic disorder resulting in chronic pulmonary and gastrointestinal/pancreatic disease. There is wide variability in clinical symptoms. CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.

    Limitations

    This assay detects as many as 93% of cystic fibrosis carriers in the Caucasian population. Within other ethnic groups, there may be higher or lower detection efficiency.

    Methodology

    Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis. Reflex testing of 5T is included in the panel for R117H interpretation.

    Polymorphisms F508C, 1506V, and 1507V are included in this profile to rule out false positives for ΔF508 and ΔI507 homozygotes.

    References

    Abeliovich D, Lavon IP, Lerer I, et al. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet. 1992; 51(5):951-956.1384328
    Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med. 2001; 3(3):168-176.11388756
    Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: Frequency and mutation distribution. Genet Test. 1997; 1(1):35-39.10464623
    Orgad S, Neumann S, Loewenthal R, et al. Prevalence of cystic fibrosis mutations in Israeli Jews. Genet Test. 2001; 5(1):47-52.11336401
    Palomaki GE, Haddow JE, Bradley LA, et al. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med. 2002; 4(2):90-94.11882786

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    480819 Cystic Fibrosis 97, Fetal 480829 Cystic Fibrosis 97, Fetal 46989-0
    480819 Cystic Fibrosis 97, Fetal 450047 Cystic Fibrosis Mutation PDF 51969-4

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