The Cystic Fibrosis Screening Program will screen for a genetic disease called Cystic Fibrosis.
Cystic fibrosis (CF) is characterized by pulmonary and gastrointestinal abnormalities in infancy and childhood. The clinical features result from abnormalities of the exocrine secretions and susceptibility to respiratory infections in the lower respiratory tract. CF has been described in virtually all ethnic groups, but is more common in Caucasians. CF affects approximately 1 in 2,500 Caucasians. Although improved treatment of pulmonary and gastrointestinal manifestations have increased life expectancy for individuals with CF, little progress has been made in treating the primary defect. Thus, the long term prognosis for individuals with CF is poor. Many die before the end of the third decade. However, the severity of CF is highly variable with some individuals surviving far past the third decade.
INHERITANCE OF CF
CF is an autosomal recessive disorder. All our genes come in pairs; they determine individual traits, such as eye color. In order for a child to have CF, both individuals contributing to the child's genetic make up would need to carry one copy of the CF gene and pass it on. In other words, if the child inherits two copies of the gene (one from each parent) the child would be affected. When both members of a couple are determined to be carriers, there is a 1 in 4, or 25% chance to have an affected child, and a 3 in 4, or 75% chance to have a child unaffected with CF.
If only one parent is a carrier, then the child would not be at risk for having CF, but there would be a 50% chance for the child to be a carrier of the CF gene.
An individual who is a carrier of the CF gene DOES NOT have CF and suffers no effects of the gene.
CARRIER SCREENING FOR CF
All individuals who are interested in screening will attend a brief educational session (about 20 minutes) prior to blood being drawn. It is very important to us that you understand all aspects of screening and its limitations.
You will then be sent for a blood draw. Your blood sample will be sent to a special laboratory for DNA analysis. The DNA from this blood sample will be analyzed for the 31 most common mutations ( changes in the gene) that cause CF. If one of these mutations is found, it will be determined that you are a carrier for the CF gene.
LIMITATIONS OF THE SCREENING
Over 300 mutations for the CF gene have already been discovered. Commercial screening is only available for the 31 MOST common mutations which account for 90% of the mutations in the Caucasian population. Thus, if we do not find a mutation, we have reduced your risk of being a carrier. However, we CANNOT eliminate your risk of being a carrier, since testing for all possible rare mutations is unavailable.
A Caucasian individual with no family history of CF has a 1 in 29 chance of carrying the gene for CF.
NOTIFICATION OF RESULTS
Results will be sent to you and your physician when available in approximately 1 week. When both members of a couple are determined to be carriers, further genetic counseling will be recommended.
TESTING A PREGNANCY FOR CF
If both members of a couple are determined to be carriers of CF, prenatal diagnosis will be available by amniocentesis or CVS during the pregnancy. You should discuss these options fully with your genetic counselor.
FEES
There is a $50 fee for the educational session. This fee covers an individual or both members of a couple. In addition, there is a $148 fee per person for the blood draw and the CF genetic test. You will be billed for these fees following your screening appointment. You may wish to submit a claim to your insurance company. Not all insurance companies will cover genetic screening. If you have an HMO insurance, you will be responsible for obtaining prior authorization if you wish your insurance to cover your screening.
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