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Cystic Fibrosis;
There is plenty of readily available detailed information on the web about Cystic Fibrosis such as WebMD. CF is an inheritable disease (genetically passed) from either parent. There are many different genetic mutations that are known to cause the disease, which is a failure of the body to produce mucous properly. This can lead to lung, pancreas, and other problems with associated secondary problems and is a very serious disease.

There is no current testing that can provide you with a zero chance of a CF causing genetic problem showing up. Testing for known CF causing mutations is a way to minimize the chance of a known CF mutation being passed along by individuals making up the donor pool through the use of their gametes for reproduction, and persons with known family history of CF may wish to have themselves tested for carrier status prior to having children.DNA studies do not constitute a definitive carrier test. Testing performed on our donors for Cystic Fibrosis can be one of two different panels listed below. Whether through panel A or B, this expensive testing gives you the extra assurance that the donors we provide have a much smaller chance of being a source for genetic problems causing Cystic Fibrosis than you would find in the general population.

PANEL A TESTING INCLUDES
Panel A is a Polymerase Chain Reaction /Oligonucleotide Ligation Assay (PCR/OLA) and fluorescence detection by capillary electrophoresis. Mutations detected by this assay (including the Amercain College of Medical Genetics Recommended 23 Mutation Panel) are:
F508delta, R553X, G551D, I507delta, 1717-1G>A, G542X, R560T, 3120+1G.A, R347P, I148T, W1282X, R334W, 1078delT, 3849+10kb>T, R1162X, N1303K, 3659delC, A455E, R117H, 2184delA, 2789+5G>A, 1898+1G>A, 621+1G>T, 711+1G>T, G85E
Reflex testing: I506V, IVS-8 5T
Additional Mutations Tested: S549N, S549R, V520F, 3876delA, R347H, 3905insT, 394delTT

Estimated Carrier Risk with testing from Panel A

Ethnic Group____________________________Detection Rate__________Chance of Carrier After Negative Test

Donors of ethnic backgrounds providing less than an 80% detection rate through panel A above, are processed through test panel B. Panel B testing provides a 99% detection rate for all races and is the most comprehensive Cystic Fibrosis screening available anywhere, and raises the odds of non carrier status to about 99% for all ethnic backgrounds. This testing is very expensive and reads the entire CFTR for all known disease causing mutations Complete CFTR testing is performed by Ambry Genetics. Donors of Norther European Caucasian background may also be processed through this testing upon request and subject to availability. Most of our donors have had this panel B testing completed.