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CFTR SCREEN BY SEQUENCING

Test Code: CFSS
Description: CFSS is a screening assay for Cystic Fibrosis or CF related phenotypes.

Genomic DNA is isolated and regions of the CFTR gene are analyzed for the presence of sequence variants by selective amplification by polymerase chain reaction (PCR) followed by direct DNA sequencing in one direction. Regions with suspected sequence variants are sequenced in both directions for confirmation. The following known exons and critical introns that contribute to Cystic Fibrosis are analyzed: 983 bases of 5' untranslated region (UTR) and exons 1 through 24 (using conventional nomenclature, actually amounting to the total of 27 exons), plus at least 20 bases into the 5' and 3' ends of all the introns. CFTR poly T status, TG tract, the 3849+10kb C>T mutation in intron 19 and the 1811+1634A>G mutation in intron 11 (1811+1.6kb) are also analyzed. Mutations found in literature and any novel variant or known variant that may affect the protein (list derived from Cystic Fibrosis Mutation Data Base compiled by Cystic Fibrosis Genetic Analysis Consortium) are reported. Known polymorphisms are reported upon request.


 
 


 
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