eTh ysaslian ynol whoesd a aiunotmt in eon el.eall FC si an ualasotom reveiscse :siedeas eth dassiee lyno enamftiss if eerth ear imuaonstt ni both llaslee of teh TCRF .egne
If yuo sllti heva 1 caloifnnut yocp of teh RFTC eeg,n ouy nca tlsil akme eht TFCR eotrinp the( hcdeoilr r/nsaaetrctnhl)eornp, neceh ouyr yobd otw’n vhae yna iessu.s
hTsi is ngsouloaa to ormtu rsuspopers gnese elki bR: so onlg as one fo eth allslee ouy ehav is t,lcaoiunnf uoy cna ekma eoghun fo the opnetir ot am“ek ”pu ofr the itceeefdv .aellle fI hbto gte ekcknod out --,R)(b/ ouy elso eht iprcntooet vodirdpe by hte neeg sueecba wno oyu meka no opnetir at la.l
heT only htnig ttha mdae sesen ofr htis touesiqn saw eth fatc htta eht ertho lealel saw nto ndecdliu in the lya.siasn
ACLIELL EIGEERYTENTOH AF( epga 57 02)91
reeTsh pilumtle lelael srianatv rof hte TRFC gene ni a lsgein uclso, so yuo colud tge cycsti sfboisri from a aiottumn ni yna noe of oshte leella svrit(aensretha over 1500 feetdnifr osittamnu dbi)rceeds het qsiutone smte doemntnei hety tesedt ofr eht tsom mmoocn y,tspe os ew anc sesuma etyh rbpylabo sujt idssem gtetsin rfo tnotimusa ni oreht .elellas
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.
oyu dene a monuaitt ni 2 elaesll to gte FC snie[c it is toasmoaul ceie]/srsve
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.