In the still emerging area of molecular pathology, NorthShore’s group has forged a path well ahead of our peers. Our Molecular Diagnostics Laboratory has been performing innovative molecular and genetic testing for a variety of diseases and conditions for decades. At the forefront of DNA analysis, we have considerable expertise in examining DNA samples from blood, tumors or other biosamples containing microbes (bacteria and fungi) to identify key genetic sequences and mutation that allow us to arrive at the best diagnoses and customized care for our patients.

We routinely use the most advanced diagnostic molecular pathology methods, including:

• PCR (polymerase chain reaction) testing for the detection of single gene variations for specific biomarkers such as KRAS, a genetic mutation involved in colorectal, pancreatic and other cancers. These studies provide more information regarding a tumor, permitting the use of specific chemotherapies that target these altered genes and lead to better patient outcomes. We also use PCR to quickly detect and characterize various infectious diseases such influenza, pertussis, MRSA and other antimicrobial resistance factors. Prompt diagnoses expedite treatment of these infections. 
• FISH (fluorescence in situ hybridization) testing, a technique that employs fluorescent dye on tissue samples to detect genetic abnormalities Highly effective in the identification of tumor targets in cancers such as of the breast or lung, FISH can be used to monitor certain forms of leukemia to optimize treatment strategies. This technique also serves as a prenatal diagnostic tool for such disorders as Down syndrome. 

Expanding our capabilities in personalized medicine and DNA analysis, NorthShore recently launched more comprehensive molecular profiling of tumors. Using cutting-edge Next Generation Sequencing (NGS), we can now more easily identify numerous mutations in many more tumor types than previously possible. 

Always at the leading-edge of individualized patient care, the lab has recently implemented innovative pharmacogenomic testing. An emerging area of medicine, pharmacogenomics involves genetic profiling of the genes that play a key role in drug metabolism. Individual variations in these genes predict how patients respond to drugs, including predisposition to certain adverse effects. Ultimately, this novel approach aims to ensure each patient gets the right dose of the right drug the first time.