eTh iyasanls yonl hwdoes a tinmutao ni eon el.alel FC si na otmsaauol scvreseei ise:saed eht sdeeias only nitassefm if erhte era titoausnm in thob seelall of hte CFRT .egne
If you lstli ahve 1 ntunfoacli oycp fo eth FRCT gnee, oyu cna iltsl mkae eth CRFT nptoire he(t oerilcdh lnrea/nhp)note,rasctr nehce your ydob ’twno heav any seusis.
This is nogalaous to uomrt uoesprprss gsnee klei Rb: os nolg as neo of hte allesle ouy aveh is nulcfto,ani you acn kmae ugonhe fo het tnrieop to mka“e ”pu orf hte fdvieecte leella. fI both get edkknoc uot R-)(/b,- ouy seol eht necoirtotp oriveddp by het eneg eubcesa nwo oyu keam on petnroi ta al.l
heT ynol hnigt htat mdae sesen orf tish eoustniq swa het tcfa thta eth ehrto elaell asw not ucinddle in eth ilsynasa.
CLLLIAE YRGETIEHETEON A(F agep 75 02)91
Tesher mlptleiu llelae tsraavin ofr het TFRC gnee ni a lsiegn sol,uc so uyo loudc tge ctsicy iiorssbf fmor a oitnutma ni nya eon fo hseot alllee aise(ehtanrrtvs reov 0501 retdnfief itmosnatu )cedibrsed eht etqsinuo emts tdenoemni yteh eetdst ofr teh omts nomomc espty, os ew acn assmeu hety ylorpbba stuj mdiess igsetnt rof ttsminoau in eorht laell.se
IRT is measured in routine heel-prick blood taken for biochemical screening of all newborn infants born in the UK. This test is one of a number of completed in newborn screening (the "Guthrie Test"). In Australia it is known 94% of those with eventual diagnosis of CF have a positive IRT on newborn screen. Samples with a raised IRT (defined as highest 1% of values) are then screened for common CF gene mutations. Each centre has a slightly different gene panel; currently 40-50 of the most common genes are sequenced. However, there are more than 2000 known mutations, so gene panel testing does miss occasional CF patients
If gene testing finds one mutation they will then have a sweat test to help confirm the diagnosis. Sweat testing is more likely to be equivocal in infants and typically not attempted in those under 5kg. If sweat test is positive more expansive gene testing is considered. If two mutations are found they are diagnosed with CF.
you ndee a iattumon in 2 slleael ot get CF ic[sen it is oaosualtm srevc/ei]es
Another thing... Isn't it possible that both the sweat chloride test and the immunoreactive trypsin are just false +? Both of these tests have pretty low threshold for returning as a + response. Why can't it be possible that one allelic mutation is enough to cause a positive result in these tests, without actually signifying the pt has a disease? My only guess is that since two answers indicate that there could be a false positive, neither can be the right answer.