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| Test Includes | This test covers all coding nucleotides of genes PRSS1, SPINK1, and 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. |
| Specimen | Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.) |
| Volume | 2 mL |
| Container | Lavender-top (EDTA) tube |
| Collection | Samples may be stored for brief periods at 4°C. Ship overnight at room temperature. |
| Storage Instructions | Maintain specimen at room temperature. |
| Causes for Rejection | Container broken or leaking; container not labeled or label not legible; improper anticoagulant |
| Reference Interval | Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants. |
| Limitations | 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.
Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure. |
| Methodology | DNA sequencing |
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