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

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

Prenatal testing: LabCorp clients should call 800-345-4363, and Integrated Genetics clients should call 800-848-4436 to speak to a laboratory genetic coordinator before collecting any specimens. In some circumstances, specimens from other family members may be required. All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for maternal cell contamination studies.


Expected Turnaround Time

7 - 10 days



Specimen Requirements


Specimen

Whole blood; or, for LabCorp clients, buccal swab kit (kit contains collection instructions); or, for Integrated Genetics clients, mouthwash kit (kit contains collection instructions)


Volume

4 mL whole blood or LabCorp buccal swab kit (LabCorp clients only) or Integrated Genetics mouthwash kit (Integrated Genetics clients only)


Container

Lavender-top (EDTA) tube, yellow-top (ACD-A) tube, LabCorp buccal swab kit, or Integrated Genetics mouthwash kit


Storage Instructions

Maintain at room temperature or refrigerate at 4°C.


Causes for Rejection

Frozen or hemolyzed whole blood specimen; quantity not sufficient for analysis; one buccal swab; improper container; wet buccal swab


Test Details


Use

Determine affected or carrier status for 97 CF gene mutations. This assay may be used for individuals whose family history or ethnicity requires testing for less common mutations. Also available for routine screening of pregnant couples. Discriminates between ΔF508 and the following polymorphisms: F508C, I506V, and I507V.


Limitations

False-positive results or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.


Methodology

DNA is isolated from the sample and tested for the 97 CF mutations listed. Regions of the CFTR gene are amplified enzymatically and subjected to a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array and fluorescence detection. Some mutations are then specifically identified by bidirectional dideoxysequencing.


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 Nov; 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 May-Jun; 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, Netanelov-Shapira I, Gazit E. Prevalence of cystic fibrosis mutations in Israeli Jews. Genet Test. 2001 Spring; 5(1):47-52. 11336401
Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med. 2002 Mar-Apr; 4(2):90-94. 11882786

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
450020 Cystic Fibrosis Mutation 97 450017 Ethnicity: 42784-9
450020 Cystic Fibrosis Mutation 97 450018 Indication: 42349-1
450020 Cystic Fibrosis Mutation 97 450019 Results: 21654-9
450020 Cystic Fibrosis Mutation 97 450021 Interpretation: 53039-4
450020 Cystic Fibrosis Mutation 97 450022 Comments: 38404-0
450020 Cystic Fibrosis Mutation 97 450023 Mutation Detection Rates N/A
450020 Cystic Fibrosis Mutation 97 450024 African American Detect. Rate N/A
450020 Cystic Fibrosis Mutation 97 450025 Ashkenazi Jewish Detect. Rate N/A
450020 Cystic Fibrosis Mutation 97 450026 Asian Detection Rate N/A
450020 Cystic Fibrosis Mutation 97 450027 Caucasian Detection Rate N/A
450020 Cystic Fibrosis Mutation 97 450028 Hispanic Detection Rate N/A
450020 Cystic Fibrosis Mutation 97 450029 Jewish,non-Ashkenazi Det. Rate N/A
450020 Cystic Fibrosis Mutation 97 450030 Other or Mixed Ethnicity Rate N/A
450020 Cystic Fibrosis Mutation 97 450031 Method/Limitations: 49549-9
450020 Cystic Fibrosis Mutation 97 450032 Director: 72486-4
450020 Cystic Fibrosis Mutation 97 450046 Mutations Analyzed: 21656-4
450020 Cystic Fibrosis Mutation 97 450047 Cystic Fibrosis Mutation PDF 51969-4
450020 Cystic Fibrosis Mutation 97 451374 Cystic Fibrosis Mutation 97 38404-0

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