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Pancreatitis: CFTR (Full Gene Sequencing)
This test covers all coding nucleotides of gene CFTR, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR. In addition, the TG tract adjacent to the 5T/7T/9T polymorphism near the intron 9 acceptor site and the intronic region covering position c.3718-2477 are also analyzed (note that intron 9 is referred to as intron 8, if exon 6a/b nomenclature is used, and that c.3718-2477 is commonly known a 3849+10kb).
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants; it may be affected by allele-dropout; it may not allow determination of the exact numbers of T/A or microsatellite repeats; and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.
Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.)
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant
In cases in which a known mutation can be documented, the physician may prefer to order test 252790.