Thomas Jefferson University Hospital
 
HEREDITARY CANCER PROGRAM

Cancer Cytogenetics & Molecular Diagnostic Testing

Genetic testing in hereditary cancer is becoming increasingly available. Five to ten percent of all cancer may have an inherited risk. The Molecular Diagnostic Testing and Cancer Cytogenetics Laboratories offer testing for a variety of genetic disorders and hematologic malignancies. Laboratory staff members are experts in mutation analysis, direct mutation detection and cytogenetic and molecular cytogenetic analysis with state-of-the-art technology. 

Molecular Diagnostic Testing Laboratory
Phone:
215-955-1111

Molecular diagnostic and screening tests for the following conditions can be arranged through the Molecular Diagnostic testing laboratories:

  • Familial adenomatous polyposis (FAP)
  • Hereditary nonpolyposis colorectal cancer (HNPCC) - including both microsatellite instability screening and MLH1 and MSH2 DNA sequencing
  • Hereditary BRCA1 and BRCA2 mutations
  • Other hereditary cancer syndromes

Cancer Cytogenetics Laboratory
Phone:
215-955-6651

The following tests are currently available through the Cytogenetics Laboratory:

  • Bone marrow  and leukemic blood karyotyping
  • Flourescent in situ hybridization (FISH) for bone marrow transplantation monitoring
  • FISH for specific chromosome rearrangements
  • Comparative genomic hybridization (CGH) and special karyotyping (SKY)