Cystic Fibrosis (CF) Profile, 32 Mutations, DNA Analysis

CPT: 81220
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Test Details


  • CF Carrier

Test Includes

Detection of 32 CF mutations: G85E; ΔI507; R553X; 711+1G>T; 3659delC; R117H; ΔF508; R560T; 1078delT; 3849+10kbC>T; V520F; R1162X; 1717-1G>A; 3876delA; R334W; G542X; W1282X; 1898+1G>A; 3905insT; R347P; S549N; N1303K; 2183AA>G; 2184delA; R347H; S549R; 394delTT; 2789+5G>A; A455E; G551D; 621+1G>T; 3120+1G>A


Help determine affected or carrier status for the 32 most common CF mutations


This assay detects as many as 90% of cystic fibrosis carriers in the Caucasian population. Within other ethnic groups, there may be higher or lower detection efficiency. Includes the mutation profile currently recommended by the ACMG and the ACOG.


Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis

Additional Information

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.

LabCorp also offers Cystic Fibrosis (CF) Profile, 97 Mutations, CFplus® [450020] for 97 CF-causing mutations, which has specific utility for partners of known carriers, equivocal/diagnostic cases, high-risk couples (previous affected child) for whom at least one mutation remains unidentified after ACMG/ACOG profile testing, or for those persons whose ethnicity requires testing for less common mutations.

Specimen Requirements


Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)


7 mL whole blood or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood or two buccal swabs


Lavender-top (EDTA) tube, yellow-top (ACD) tube, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab

Clinical Information

Special Instructions

Whole blood tube should be sent to the lab unopened. It is preferable not to perform additional testing on original tubes prior to PCR testing. 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.


American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. N° 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 2004 Aug; 104(2):425-428. 15292027
American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion N° 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011 Apr; 117(4):1028-1031. 21422883
Grody WW, Cutting GR, Klinger KW, et al. Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. Laboratory Standards and Guidelines for Population-Based Cystic Fibrosis Carrier Screening. Genet Med. 2001; 3(2):149-154. 11280952
Population Variation of Common Cystic Fibrosis Mutations. The Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat. 1994; 4(3):167-177. 7530552
Richards CS, Bradley LA, Amos J, et al. Standards and Guidelines for CFTR Mutation Testing. Genet Med. 2002; 4(5):379-391; erratum: 2002; 4(6):471. 12394352
Watson MS, Cutting GR, Desnick RJ, et al. Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of Medical Genetics Mutation Panel. Genet Med. 2004; 6(5):387-391; erratum: Genet Med. 2004; 6(6):548; Genet Med. 2005; 7(4):286. 15371902


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
480533 Cystic Fibrosis Profile 480554 CF, Screen 21654-9
480533 Cystic Fibrosis Profile 480556 Comment: 77202-0
480533 Cystic Fibrosis Profile 511943 PDF 51969-4

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