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
  
  

The following is a list of some of the most common indications for performing cytogenetic and/or FISH analysis for diagnostic purposes in constitutional abnormalities. In the case of acquired abnormalities [cancer], the studies are of diagnostic use as well as helpful for disease monitoring following treatment and/or transplant.

Constitutional

• Multiple (including 2 or more organ systems) congenital abnormalities [blood]
• Suspected known chromosome syndrome [blood]
• Recurrent pregnancy loss (2 or more) [blood from parents]
• Unexplained infertility in either sex [blood]
• Ambiguous genitalia [blood]
• Unexplained mental deficit [blood]
• Unexplained developmental delay [blood]
• Congenital hypotonia [blood]
• Congenital heart defects [blood]
• Any unexplained miscarriage [POC]
• Autism [blood]
• Family history of structural chromosome abnormality or rearrangement [blood]
• Maternal age > 35 years of age [amniotic fluid]
• Fetal ultrasound abnormalities [amniotic fluid]
• Abnormal prenatal Quad screen [amniotic fluid]
• Previous child with chromosome abnormality [blood or amniotic fluid when pregnant] 

Acquired (Cancer)

• CLL [marrow]
• AML [marrow]
• ALL [marrow]
• CML [marrow]
• Any lymphoma [node or involved tissue]
• Any solid tumor [tumor material]
• Multiple myeloma [marrow]
• Myelodysplastic syndrome (MDS) [marrow]
• Breast cancer for HER2 Amplification [tumor]
• Bladder Carcinoma follow-up [urine]
• Any suspected malignancy [tumor]
• Retrospective diagnosis of any malignancy with a FISH marker [paraffin block, frozen tissue, or touch  prep slides] 

Specific tissue requirements and testing specifics can be obtained by calling our laboratories at (402) 559-5070. Clinical details are necessary to allow us to perform the most appropriate and efficient testing for each patient. Results are communicated to the referring physician via telephone or fax in a timely manner to allow for optimal patient care.