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

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Turnaround Time: 7 - 10 days
CPT Code:


Test Type: 4 mL whole blood or LabCorp buccal swab kit


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 ?F508 and the following polymorphisms: F508C, I506V, and I507V.

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.

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. PubMed 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. PubMed 11388756

Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: Frequency and mutation distribution. Genet Test. 1997; 1(1):35-39. PubMed 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. PubMed 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. PubMed 11882786

Collection Details:

Collection Instructions:

All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for maternal cell contamination studies.

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

Maintain at room temperature or refrigerate at 4°C. In some circumstances, specimens from other family members may be required.