Human Genetics Laboratory

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• Tests Available
  • Rieger Syndrome, Type I (4q25)
  • COL2A1 Associated Connective Tissue Disorders (12q13.11)
  • COL1A1 Associated Connective Tissue Disorders (17q21.3)
  • Prenatal Diagnostic Tests
    • Cytogenetic Analysis
      
      
    • Amniotic Fluid Rapid Prenatal Aneuploidy
      
      
    • Quad Fetal Risk Assessment
      
      
    • CVS Cytogenetic Analysis
      
      
    • CVS Interphase FISH
      
      
    • POC Cytogenetic Analysis
      
      
    • POC Interphase FISH
      
      
    
    
  • Adult & Children Diagnostic Tests
    • Blood - Cytogenetic Analysis
      
      
    • Blood - Interphase FISH
      
      
    • Blood - Metaphase FISH
      
      
    • Blood - Interphase / Metaphase FISH
      
      
    • Blood - Breakage Studies
      
      
    • Blood - Microarray CGH
      
      
    • Blood - Methylation for Prader-Willi
      
      
    • Blood - MECP2 Deletion/Duplication
      
      
    • Blood - MECP2 DNA Sequencing
      
      
    • Blood - UBE3A Sequencing for Angelman syndrome
      
      
    • Blood - PTPN11-Tcomp Sequencing
      
      
    • Blood - PTPN11-Tpart Sequencing
      
      
    • Blood - PTPN11-Tseg Sequencing
      
      
    • Biopsy - Cytogenetic Analysis
      
      
    • Biopsy - Interphase FISH
      
      
    • Biopsy - Metaphase FISH
      
      
    • Biopsy - Interphase / Metaphase FISH
      
      
    • Biopsy - Microarray CGH
      
      
    • Biopsy - Cell Culture
      
      
    • Biopsy - Cryopreservation
      
      
    • Constitutional FISH Panels
      
      
    • Regions of the Genome Assayed
      
      
    
    
  • Cancer Diagnostic Tests
    • Hematology / Oncology FISH Panels
      
      
    • RT-PCR
      
      
    • HER2/neu - Paraffin Block
      
      
    • HER2/neu - Solid Tumor Tissue
      
      
    • UroVysion
      
      
    • Lymph - Metaphase FISH
      
      
    • Lymph - Interphase FISH
      
      
    • Lymph - Cytogenetic Analysis
      
      
    • Tumor - Metaphase FISH
      
      
    • Tumor - Interphase FISH
      
      
    • Tumor - Cytogenetic Analysis
      
      
    • Bone Marrow - Interphase FISH
      
      
    • Bone Marrow - Cytogenetic Analysis
      
      
    • Blood - Interphase FISH
      
      
    • Blood - Cytogenetic Analysis
      
      
    
    
  • Molecular Diagnostic Tests
    • PTPN11 for Noonan syndrome
      
      
    • PTEN
      
      
    • UBE3A Sequencing
      
      
    • Methylation Studies
      
      
    • Fragile X Studies
      
      
    • DNA Sequencing for Rett syndrome
      
      
    
    
  
  
• Specimen Requirements
• Indications for Cytogenetics or FISH Studies
  
  
• Genetics Clinics
  • Prenatal Diagnosis
    • Quad Fetal Risk Assessment
      
      
    • Prenatal Diagnosis Options
      
      
    • Ultrasound
      
      
    • Amniocentesis
      
      
    • Chorionic villus sampling (CVS)
      
      
    • Percutaneous Umbilical Blood Sampling (PUBS)
      
      
    
    
  • Cancer
    
    
  • Statewide Genetics Clinics
    
    
  
  
• Forms
  
  
• Faculty & Staff
  
  

Cancer is the second leading cause of death in the United States, accounting for more than 500,000 deaths each year. In this country, 83 million Americans will develop some type of cancer in his or her lifetime, which puts the lifetime risk at 1 in 3.

Early detection and intervention have the potential to significantly reduce morbidity and mortality in many forms of cancer.  

Hereditary Cancer

Most cases of cancer occur sporadically, without a family history. Some cancers, however, are known to cluster in certain families. Cancer of the breast, colon, and ovary are among the most common forms of malignancy to be familial. Clusters of cancer within families may be due to chance, shared environmental exposures, or inherited factors. The recent discovery of a number of cancer genes has shown that the susceptibility to cancer can be transmitted as an inherited trait. It is estimated that 10-15% of all cancer cases are due to hereditary factors. Individuals within these families may benefit from genetic counseling. 

Features of Hereditary Cancer

Some characteristics make it more likely for there to be a strong hereditary component to cancer in the family. These features may include: 

• Cancer in 2 or more close relatives
• Bilateral cancer in paired organs (breast, ovary)
• Earlier age of onset than is typical
• Multiple primary tumors
• Characteristic findings of cancer and other symptoms suggestive of a hereditary syndrome  

Genetic Counseling & Cancer Risk Assessment

Genetic counseling is available to identify families at increased risk for cancer and includes: 

1. Collection and interpretation of family history
2. Cancer risk assessment
3. Gene testing for cancer susceptibility in a number of inherited forms of cancer
4. Emotional support and resources for families with hereditary cancer  

If hereditary factors are identified or gene testing reveals an increased susceptibility to cancer, family members can then plan a personalized cancer prevention and screening program with their physician to diagnose cancer early and improve cancer management.