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Lung Cancer - Detecting Fusion Genes using Next-Generation Sequencing

UChicago MedLabs’ Clinical Genomics Laboratory has announced the launch of a targeted next generation sequencing (NGS) assay for the detection of clinically relevant ALK, RET, and ROS1 fusion genes in non-small cell lung cancer specimens. 

The assay is designed to detect specific isoforms present in 95 to 98 percent of cases containing these three fusion genes, with the additional ability to detect the presence of novel isoforms. When novel isoforms are suspected, MedLabs pathologists will recommend additional follow-up testing.

“We’re excited to offer this new test,” said Y. Lynn Wang, MD, PhD, FCAP, division director of genomic and molecular pathology at the University of Chicago. “The ability to identify ALK, RET, and ROS1 fusion genes in non-small cell lung cancer gives physicians additional information on how best to provide personalized treatment to their patients.”

The test procedure involves RNA extraction, RNA quality and quantity assessment, and reverse transcription and multiplex PCR target amplification followed by NGS and downstream analysis for the detection of fusion isoforms and control gene signatures.  Acceptable specimens include formalin-fixed, paraffin-embedded (FFPE) tissue or fresh cytology smears stained using Diff-Quik.

The genomics laboratory will perform the test at least once weekly, Monday through Friday, during the day shift. Expected turnaround time for results is 12 to 14 business days following receipt of a specimen.  Results will be reported with identified fusion genes and fusion partners identified. Mutations and copy number alterations will not be detected or reported.
Clients should direct questions to the Genomic and Molecular Pathology Division at 773.702.4946, or contact Co-directors of the Clinical Genomics and Molecular Diagnostics Laboratories Jeremy Segal, MD, PhD, at 773.702.3674, or Larissa Furtado, MD, at 773.702.2980.

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