Additional Disease Information

Cystic Fibrosis

There is 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 occurring. 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.

PANEL TESTING INCLUDES
This panel is a Polymerase Chain Reaction /Oligonucleotide Ligation Assay (PCR/OLA) and fluorescence detection by capillary electrophoresis. Mutations detected by this assay (including the Amercian College of Medical Genetics Recommended 23 Mutation Panel) are:

F508delta	G542X	W1282X	N1303K	2789+5G>A
R553X	R560T	R334W	3659del	1898+1G>A
G551D	3120+1G.A	1078delT	A455E	621+1G>T
I507delta	R347P	3849+10kb>T	R117H	711+1G>T
1717-1G>A	I148T	R1162X	2184delA	G85E

Reflex testing:

6V

IVS-8

Additional Mutations Tested:

549

S549R

V520F

3876delA

R347H

3905insT

394delTT

Estimated Carrier Risk with testing

DNA studies do not constitute a definitive carrier test.