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
  
  

Percutaneous umbilical blood sampling (PUBS) or fetal blood sampling is a procedure indicated in certain high-risk situations.

A small sample of fetal blood is withdrawn through a slender needle passed through the woman's abdomen into the baby's umbilical cord. Although the procedure is similar to an amniocentesis for the woman, it requires a high-level of expertise by those performing and assisting in the procedure. It is available in a limited number of high-risk pregnancy centers. PUBS is generally performed after the 18th week in pregnancy. The timing depends on the reason the test is being done. A brief period of observation and special preparation may be suggested for procedures done after the 24th week of pregnancy. 

The risk to the pregnancy are greater than for other prenatal procedures, therefore, PUBS is reserved for those pregnancies in which the information required about the fetus (fetal blood type, fetal anemia, infection, etc.) cannot be obtained accurately, completely, and/or in sufficient time to benefit pregnancy management by other prenatal diagnostic procedures.