CFTR Gene - Prenatal Diagnosis

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 Prenatal Diagnosis is available for families who have had CFTR mutations identified through Cystic Fibrosis Carrier Screening Panel and/or CFTR Gene Sequence Analysis or CFTR Gene- Known Familial Mutation Analysis performed in this laboratory or by special arrangement in advance with the director.

Indications for Testing:

• Pregnancy known to be at risk for cystic fibrosis and known CFTR familial mutations.

OMIM #: 219700 277180

Sample requirements:
Amniotic fluid or cultured amniocytes
Chorionic villi or cultured chorionic villi
Contact laboratory genetic counselors or molecular director for specific sample requirements in advance.
Maternal blood sample is also required for Maternal Cell Contamination studies. Send 5 mL purple top (EDTA) along with prenatal sample.

Sample handling: Specimens being sent from outside facilities should be packaged according to standard medical safety practices. The specimen should never be frozen. A cold pack should be placed in the container during warm summer months. 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.

Turn around time: 1 week

List price/CPT codes: $1195.68 / 83890, 83894x3, 83898x3, 83900, 83901x14, 83904x6, 83909x7, 83912

Price of testing includes Maternal Cell Contamination study.