1. What is Cystic Fibrosis? Cystic Fibrosis (CF) is an inherited disease that results from mutations in a gene called, "CFTR". Although severity varies, affected patients may have both lung disease and impaired digestion, as well as problems in other organ systems.
2. What is the purpose of this test and what are its limitations? This test detects the presence of specific genetic changes (mutations) in the CFTR gene. Everyone has two copies of this CFTR gene; an individual may have two normal copies (unaffected non-carrier), two abnormal copies (affected with CF), or one normal and one abnormal (CF carrier If mutations are not found by the testing procedure, it does not mean that the risk of carrying or developing CF is not present. It simply means that these specific mutations have not been found, although other mutations may be present. Where possible and appropriate, negative results will be used to calculate revised carrier risks.
3. What is required to perform this test? You will be asked to provide 5 mL of blood, which is equal to about one tablespoon. DNA will be extracted from this blood sample and tested. The only discomfort that you may feel is the stick of the needle in your arm. You may also experience a small bruise at the site of the needle puncture. You will also be asked to provide information regarding your medical history, which is necessary for proper interpretation of your test result. In the unlikely event that you should be injured in the course of being tested, your physician will provide any necessary medical care. However, you would be expected to bear the cost of such medical care. Compensation will not be provided in the event of any injury.
4. Is there a cost for this test? This is a routine clinical laboratory test and the results may aid in your diagnosis; thus, you or your health insurer will be billed for this procedure.
5. What will happen to the DNA once the test is complete? The original blood sample will be discarded at the end of the testing process or stored not more than 60 days. The DNA will be retained for a minimum of 6 months. In some circumstances, a patient's DNA may be used anonymously as a negative or positive control sample in future testing, but, in this circumstance, all identifiers will be removed prior to re- testing and the DNA sample and results obtained will remain anonymous.
I understand and agree that my DNA remaining after testing may be stored for up to 6 months should additional testing be required. Please
6. How will I obtain results from this test? DNA testing and interpretation of results are complex. The information from this test will be provided in the form of a written report to your physician who will inform you of the results. The laboratory will not provide results directly to patients. Your physician may suggest genetic counseling prior to performing this test or if your results are abnormal. To the extent permitted by law, all of your laboratory records and results are confidential and shall not be disclosed without your written authorization.
Patient Attestation of Informed Consent:
My signature below indicates that I have received information about this test, Cystic Fibrosis, and that I have read and understood the material inthis document. I have been given a full opportunity to ask questions that I may have about the testing procedure and related issues. I agree to undergo this testing.