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 Known Familial Mutation Analysis is available for family members when a mutation is identified through analysis performed in this laboratory using the CFTR Gene Sequence Analysis. CFTR Prenatal Diagnosis is also available for families who have had mutations identified through analysis performed in this laboratory or by special arrangement in advance with the director.
Indications for Testing:
- Targeted mutation analysis for known 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
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.
Turn around time: 2 weeks
List price/CPT codes: $130.00 / 83890, 83898, 83894, 83904x2, 83909x2, 83912