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

Additional Information:

UFHPL Epic order code: LAB542

Cystic fibrosis 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 percent 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.


  • 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

CPT Code(s):


Specimen Requirements:

Type: Whole blood or buccal swabs
Container/Tube: Lavender-top tube (EDTA) or yellow-top tube (ACD) or buccal swab kit

Sample Volume: 7 mL whole blood or four buccal swabs

Minimum Volume: 3 mL whole blood or two buccal swabs

Storage: Store specimens at room temperature.
Rejection Criteria:

  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis
  • Improper container
  • One buccal swab
  • Wet buccal swab


This test is used to help determine the affected or carrier status for the 32 most common CF mutations.


This test detects up to 90 percent of cystic fibrosis carriers in the Caucasian population. Within other ethnic groups, there may be higher or lower detection efficiency. It includes the mutation profile recommended by the American College of Medical Genetics and Genomics (ACMG) and the American Congress of Obstetricians and Gynecologists (ACOG).


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