Cystic Fibrosis (CF) Full-gene Carrier Screen

Carrier screening for cystic fibrosis by full gene sequencing and deletion/duplication analysis. Variants of uncertain significance are not included.

To test fetal specimens, including cordblood, order test code 482389, GeneSeq PLUS, Fetal Analysis

This test includes the following gene: CFTR

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants, or repeat expansions. Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships. This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).

Deignan JL, Astbury C, Cutting GR et al. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 22, 1288 (2020). PMID: 32404922

Ong T, Marshall SG, Karczeski BA, et al. Cystic Fibrosis and Congenital Absence of the Vas Deferens. 2001 Mar26 [Updated 2017 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. PMID: 20301428