CFTR Gene Analysis

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 in CFTR.
  • Prenatal diagnosis of previous identified familial mutations in CFTR.

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
  • Amniotic fluid or cultured amniocytes
  • Chorionic villi or cultured chorionic villi

Contact laboratory genetic counselors or molecular director for specific sample requirements in advance.  

Note: Maternal blood sample is also required for Maternal Cell Contamination studies for prenatal samples. Send five ml purple top (EDTA) along with prenatal sample.

Cultured skin fibroblasts, blood lymphocytes, and frozen tissue from biopsy may also be used for DNA analysis. Please contact lab for further details.

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 according to standard medical safety practices with a cold pack. The specimen should be shipped by overnight priority (scheduled to arrive by Friday morning at the latest).

Shipping Address

Center for Human Genetics Laboratory
10524 Euclid Ave, Sixth Floor
Cleveland, OH 44106
216-983-1134

For local samples, please call Client Service (216-844-5227) to arrange for sample pick-up.

CPT Code

CFTR Sequencing/CFTR Prenatal Sequencing – 81223
CFTR Known Familial Mutation analysis/CFTR Prenatal Known Familial Mutation Analysis – 81221

Turn Around Time

CFTR Sequencing – 3 weeks
CFTR Known Familial Mutation analysis – 1 week
CFTR Prenatal Diagnosis – 1 week

Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens requisition for each sample.

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