RT Journal Article SR Electronic T1 Improved turn around time for molecular genetic analysis for cystic fibrosis: The Irish experience JF European Respiratory Journal JO Eur Respir J FD European Respiratory Society SP p4304 VO 38 IS Suppl 55 A1 Frances Flanagan A1 Louisa Glackin A1 Dubhfeasa Slattery YR 2011 UL http://erj.ersjournals.com/content/38/Suppl_55/p4304.abstract AB Introduction: Ireland's Cystic Fibrosis (CF) newborn screening programme is due to commence later in 2011 using immune reactive trypsinogen & genetic analysis for the detection of cystic fibrosis transmembrane regulator protein (CFTR) mutations. The National Centre for Medical Genetics screens for 11 CFTR mutations & further analysis for rarer mutations is currently performed in Manchester (using gene sequencing & multiplex ligation-dependant probe amplification (MLPA) testing). Prior to 2008 this further analysis was performed in Exeter & subsequently in Brest.Aim: To identify the turn-around time for genetic analysis results for children with suspected CFMethods: A 16 year retrospective study of genetic analysis results for CFTR mutations was performed. The turn-around time was defined as the number of days from sending DNA until reports were received. Descriptive statistics were used.Results: Overall, the median time to receive genetic analysis results was 23 days, range 1-2434 days (n=91). The median turn-around time for the identification of 2 positive CFTR mutations was 21 days, range 1-1973 days. The most common identified mutation, Phe508del/Phe508del, had the shortest median turn around time of 18 days, range 1-107 days. Three patients initially suspected of having CF & with 2 positive sweat tests, did not have any CFTR mutations identified (median time 2252 days, range 229-2434 days).Conclusion: Recent technological advancements allow for more detailed genetic analysis to be performed, identifying newer CFTR mutations over a shorter time period. The introduction of newborn screening & extended CFTR genetic analysis will ensure that the time to CF diagnosis is greatly improved.