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

Overview:

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. 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.

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. PubMed 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. PubMed 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. PubMed 11280952

Population Variation of Common Cystic Fibrosis Mutations. The Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat. 1994; 4(3):167-177. PubMed 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. PubMed 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. PubMed 15371902