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Labcorp #252773 PRSS1 mutation
MessageIn cases in which there is a known mutation that can be documented, the physician may prefer to order test 252777
Test Code
252773
CPT Codes
81404
Includes
This test covers all coding nucleotides of gene PRSS1, 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 n
Preferred Specimen
Whole blood; DNA is accepted (Call 800-435-4363 for DNA collection information.) 2 mL
Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature
Transport Container
Lavender-top (EDTA) tube
Specimen Stability
Maintain specimen at room temperature
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Container broken or leaking; container not labeled or label not legible
Methodology
DNA sequencing
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.
"
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.
"
Reference Range
Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants