Human Genetics Laboratory

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• Tests Available
  • 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
  
  

• Cytogenetic Analysis
  
  
• Amniotic Fluid Rapid Prenatal Aneuploidy
  
  
• Quad Fetal Risk Assessment
  
  
• CVS Cytogenetic Analysis
  
  
• CVS Interphase FISH
  
  
• POC Cytogenetic Analysis
  
  
• POC Interphase FISH
  
  

Amniotic Fluid

• Cytogenetic Analysis 
• Amniotic Fluid Rapid Prenatal Aneuploidy  

Maternal Serum Multiple Marker Screen

• Quad Fetal Risk Assessment

Chorionic Villi Sampling (CVS)

• Cytogenetic Analysis 
• Interphase FISH

Products of Conception (POC)

• Cytogenetic Analysis
• Interphase FISH