Quest Diagnostics Investments, Inc.

Aurelia Meloni-Ehrig

Maher Albitar

Heather R Sanders

The present disclosure relates to methods for the diagnosis and evaluation of neoplastic disorders, particularly non-small cell lung cancer. Assays are described in which patient test samples are analyzed for the presence of one or more specific EML4-ALK fusion genes associated with neoplastic disorders.

EML4-ALK translocations in lung cancer

Described herein are methods, compositions and kits directed to the detection of gene dysregulations such as those arising from gene fusions and/or chromosomal abnormalities, e.g., translocations, insertions, inversions and deletions. Samples containing dysregulated gene(s) of interest may show independent expression patterns for the 5' and 3&#x2032; regions of the gene. The methods, compositions and kits are useful for detecting mutations that cause the differential expression of a 5&#x2032; portion of a target gene relative to the 3&#x2032; region of the target gene.

Methods for detecting gene dysregulation by intragenic differential expression

Described herein are methods, compositions and kits directed to the detection of gene dysregulations such as those arising from gene fusions and/or chromosomal abnormalities, e.g. translocations, insertions, inversions and deletions. Samples containing dysregulated gene(s) of interest may show independent expression patterns for the 5' and 3&#x2032; regions of the gene. The methods, compositions and kits are useful for detecting mutations that cause the differential expression of a 5&#x2032; portion of a target gene relative to the 3&#x2032; region of the target gene.

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Gainesville, VA, United States of America

Aurelia Meloni-Ehrig