Pancreatitis: CFTR (Full Gene Sequencing)

CPT: 81223
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Test Details

Test Includes

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).

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.

Methodology

DNA sequencing

Reference Interval

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

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

Clinical Information

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252790.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252787 Pancreatitis: CFTR 21654-9 252066 Routing 21654-9

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf