Clinical Genomic Tests

Next generation sequencing detects actionable and targetable mutations for appropriate diagnosis, prognosis and selection of therapy. The identification of these specific genetic alterations, especially in cancer cells, enables clinicians to efficiently match new, biologically-targeted therapies to our patients.

These targeted, next generation sequencing genomic tests:

  • Provide cancer genome properties pointing toward personalized treatment regimes, including immunotherapy, check point inhibitor therapy and gene therapy
  • Help isolate the causes of drug resistance, and highlight FDA-approved target therapies with a better likelihood of success
  • Identify relevant genes that may have implications for enrollment in active clinical trials

With the development of the first Whole Exome Sequencing (WES) test approved by the New York State Department of Health, the Englander Institute has made genetic sequencing widely available for cancer patients at Weill Cornell Medicine and NewYork-Presbyterian Hospital.

Several genomic tests developed with the Clinical Genomics Laboratory and Department of Pathology and Laboratory Medicine at Weill Cornell Medicine/New York-Presbyterian Hospital have been approved by the New York-State Department of Health (NYS-DOH), and are clinically available:






50 Gene Panel


Panel may identify mutations in 50 cancer-related genes, and relevant genetic mutations in lung, colorectal, thyroid, brain and skin cancer  Solid tumors 50 cancer related genes; concurrently interrogates 2800 hotspots/variants


Clinically significant somatic mutations including single nucleotide variants (SNVs), insertions and deletions (indels), gene fusions (RNA) and copy number alterations (CNAs) Solid tumors 143 cancer-related genes categorized by genomic alterations into 73 hot spot genes


Comprehensive profile of all genes within cancer cells. EXaCT-1 is able to provide a more complete understanding of a patient’s cancer, and allows molecular pathologists to find alterations in the cancer-development process in unexpected regions of the exome.


Solid Tumor & Hematologic Malignancies Unbiased analysis of 22,000 genes in both healthy and malignant cells


Interrogates mutation status of recurrently mutated genes that play an important role in the diagnosis, prognosis and clinical management of patients with myeloid neoplasms Hematopoietic Myeloid Neoplasms Targeted enrichment of 45 genes recurrently mutated in myeloid malignancies



The NCI-MATCH Trial is a precision medicine cancer treatment clinical trial involving patients at nearly 1,100 sites, nationwide. A National Cancer Institute Match-designated laboratory for genomic testing, Weill Cornell Medicine can now help to identify and refer potentially eligible patients to cancer trials nationwide. Through Oncomine testing, enrolled patients have their tumors genetically sequenced and may be assigned a therapy specifically targeted to their genetic mutation depending on testing results. The preliminary results of the more than 30 different treatment arms suggest a greater role for genomic sequencing in determining therapeutic approaches.

Read: NCI Director Highlights Precision Medicine and Immunotherapy in Talk at Weill Cornell Medicine

These advanced gene-sequencing technologies help identify the genetic alterations that give rise to and drive disease. Our goal is to make use of advanced gene-sequencing technologies to identify the genetic alterations that give rise to and drive each patient’s illness.


Visit Weill Cornell’s Clinical Genomics Lab for more information about clinical genomic testing at Weill Cornell Medicine.