Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing)

CPT: 81223; 81404(x2)
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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.


Expected Turnaround Time

28 - 35 days



Specimen Requirements


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


Test Details


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


Reference Interval

Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.


LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252794 Pancreatitis: 3-gene Panel 57931-8 252063 Routing 57931-8

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