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CYSTIC FIBROSIS DIAGNOSTIC SEQUENCING ASSAY, BLOOD

Test Code: CFDS
Description: Cystic Fibrosis is the most common life-threatening autosomal recessive disorder in Caucasians with an incidence of ~1: 2000-3000 births and is also found commonly across several ethnic groups. This disease affects multiple organ systems and is characterized by dehydrated secretions due to defective chloride transport across cell membranes.

This diagnostic sequencing assay covers 983 bases of 5' untranslated region, exons 1 to 24 (conventional nomenclature, amounting in fact to a total of 27 exons), at least 20 bases into the 5' and 3' ends of all introns, the CFTR poly T status and TG tract, intron 19 surrounding the 3849+10kbC>T mutation and intron 11 surrounding the 1811+1634A>G mutation. Analysis for known and novel mutations in these areas of the gene is performed by bidirectional sequencing. Exon specific bidirectional sequencing is also available.


 
 


 
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