Molecular Diagnostics Laboratory

Function

The Molecular Diagnostics Laboratory (MDL) conducts a variety of molecular genetic tests for clinical and risk assessment purposes. In addition, the MDL provides sequencing services to support clinical research at Fox Chase. The laboratory, which is within the Department of Pathology, is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA), a designation that qualifies the MDL to perform high complexity clinical laboratory testing.

Description

Next-Generation DNA Sequencing Test

The Molecular Diagnostics Laboratory is now offering patients a cutting-edge molecular test called the Targeted Cancer Panel (TCP). Using leading-edge technology—the Ion Torrent Personal Genome Machine—the test sequences 50 cancer-related genes in an individual's tumor. This "genetic blueprint" of the patient's cancer has the potential to enable physicians to match the patient with a precision drug that targets his or her specific cancer.

Single Gene Tests

Single gene tests are routinely used to identify mutations that are common in certain types of cancer. The presence of these mutations may indicate that a patient can be treated with a specific targeted therapy, or predict that a patient will not respond to a specific therapy.

Risk Assessment Testing

For patients whose personal or family histories suggest a high inherited genetic risk of cancer, a genetic test can predict their likelihood of developing that disease.

Molecular Test Menu

• Solid Tumors
  • Next-Generation Sequencing
    • TCP - Targeted Cancer Panel
    • CancerCode™ (Clinical Trial use only)
  • Mutation Panels for Solid Tumors
    • Lynch Syndrome Panel - MSI (PCR); MLH1, MSH2, MSH6, PMS2 (IHC) reflexed to BRAF (if indicated)
  • Single Gene Mutation Analyses
    • BRAF
    • EGFR
    • KIT
    • KRAS
    • PDGFRA
  • Microsatellite Instability (MSI) Fragment Analysis
  • FISH (send out testing)
    • ALK
    • ROS1
• Hematologic Malignancies
  • IGH/B-cell Gene Rearrangement
  • TRG/T-cell Gene Rearrangement
• Molecular Genetic Tests
  • BRCA Ashkenazi Jewish Founder Panel
  • BRCA1 Mutation Analysis (Site Specific – Known mutation)
  • BRCA2 Mutation Analysis (Site Specific – Known mutation)
  • UGT1A1 Genotyping (Irinotecan Toxicity)
  • BAP1 Mutation Analysis (Full Gene Sequencing)
  • BAP1 Mutation Analysis (Site Specific – Known mutation)