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

TEST: 450020
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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

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 specimen for maternal cell contamination studies.

Expected Turnaround Time

7 - 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.

Consent for Genetic Testing (Consentimiento para análisis genético)

CFTR-Related Disorders: CF and CBAVD Full Gene Sequencing

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

Cystic Fibrosis Genetic Testing Patient Flyer

Specimen Requirements

Specimen

Whole blood or Labcorp buccal swab kit (kit contains collection instructions)

Volume

4 mL whole blood or Labcorp buccal swab kit

Container

Lavender-top (EDTA) tube, yellow-top (ACD-A) tube, pink-top (EDTA) tube, tan-top (EDTA) tube or Labcorp buccal swab 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 21656-4 450017 Ethnicity: 42784-9
450020 Cystic Fibrosis Mutation 97 21656-4 450018 Indication: 42349-1
450020 Cystic Fibrosis Mutation 97 21656-4 450019 Results: 21654-9
450020 Cystic Fibrosis Mutation 97 21656-4 450021 Interpretation: 53039-4
450020 Cystic Fibrosis Mutation 97 21656-4 450022 Comments: 38404-0
450020 Cystic Fibrosis Mutation 97 21656-4 450023 Mutation Detection Rates N/A
450020 Cystic Fibrosis Mutation 97 21656-4 450024 African American Detect. Rate N/A
450020 Cystic Fibrosis Mutation 97 21656-4 450025 Ashkenazi Jewish Detect. Rate N/A
450020 Cystic Fibrosis Mutation 97 21656-4 450026 Asian Detection Rate N/A
450020 Cystic Fibrosis Mutation 97 21656-4 450027 Caucasian Detection Rate N/A
450020 Cystic Fibrosis Mutation 97 21656-4 450028 Hispanic Detection Rate N/A
450020 Cystic Fibrosis Mutation 97 21656-4 450029 Jewish,non-Ashkenazi Det. Rate N/A
450020 Cystic Fibrosis Mutation 97 21656-4 450030 Other or Mixed Ethnicity Rate N/A
450020 Cystic Fibrosis Mutation 97 21656-4 450031 Method/Limitations: 49549-9
450020 Cystic Fibrosis Mutation 97 21656-4 450032 Director: 72486-4
450020 Cystic Fibrosis Mutation 97 21656-4 450046 Mutations Analyzed: 21656-4
450020 Cystic Fibrosis Mutation 97 21656-4 450047 Cystic Fibrosis Mutation PDF 51969-4
450020 Cystic Fibrosis Mutation 97 21656-4 451374 Cystic Fibrosis Mutation 97 38404-0

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The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf