Cystic Fibrosis (CF) is an autosomal recessive disorder caused by deficiency of CFTR gene. In addition, deficiency of CFTR gene can also cause congenital absence of the vas deferens (CAVD). Cystic fibrosis affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Pulmonary disease is the major cause of morbidity and mortality in CF.

CFTR Gene Sequence Analysis is not intended as a general screening test for healthy individuals with no family history of CF who have not first had the CF carrier screening panel. For further discussion of specific cases, contact the laboratory genetic counselors or the molecular laboratory director.

CFTR Known Familial Mutation analysis is available for family members when a mutation has been identified through analysis performed in this laboratory. CFTR Prenatal Diagnosis is also available for families who have had a mutation identified through analysis performed in this laboratory or by special arrangement in advance with the director.

Test Indications

  • Confirmation of positive newborn screening of cystic fibrosis
  • Confirmation of a clinical diagnosis of atypical cystic fibrosis
  • Confirmation of a clinical diagnosis of congenital absence of vas deferens
  • Targeted mutation analysis for known familial mutations.
  • Prenatal diagnosis of previous identified familial mutations.

OMIM #: 219700    277180

Sample Requirements

  • Infants: 2-3 mL whole blood in purple top EDTA tube
  • Children (>2 years) and Adults: 5-7 mL whole blood in purple top EDTA tube

Cultured skin fibroblasts, blood lymphocytes, and frozen tissue from biopsy may also be used for DNA analysis. Cell Line Build-up is available, as is DNA Extraction and Storage.

Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].

Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.

List price/CPT codes: $1856 / 83890, 83898x27, 83894x27, 83904x54, 83909x54, 83912

Turn Around Time: 4 weeks

Please submit a completed Cytogenetics and Molecular Genetics Requisition (PDF) for each sample.