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
  
  

• Prenatal Diagnosis
  • Quad Fetal Risk Assessment
    
    
  • Prenatal Diagnosis Options
    
    
  • Ultrasound
    
    
  • Amniocentesis
    
    
  • Chorionic villus sampling (CVS)
    
    
  • Percutaneous Umbilical Blood Sampling (PUBS)
    
    
  
  
• Cancer
  
  
• Statewide Genetics Clinics
  
  

Clinical Genetics & Genetic Counseling Service 

Our genetic counselors deal with the occurrence or risk of recurrence of a genetic disorder within a family. Counselors assist individuals and families in understanding the diagnosis, treatment and management of a genetic disorder. Part of the counseling can include referrals to agencies and support groups associated with a specific diagnosis. Clinical genetic evaluation/counseling should be considered if there is a family history or concern about: 

• Prenatal Diagnosis 
• Birth Defects
• Mental retardation
• Known or suspected chromosome abnormality
• Known or suspected genetic disorder
• Metabolic disorder
• Affective disorder (schizophrenia, manic depression, etc.)
• Delayed development of secondary sex characteristics and/or amenorrhea
• Sensory defect(s)
• Progressive neurologic disorder
• Neuromuscular disorder
• Congenital heart disease
• Diabetes
• Consanguinity (intrafamilial marriages)
• An ethnic background of specific genetic conditions (African American - Sickle Cell anemia,   Jewish - Tay Sachs disease)
• Concerns for environmental effects (drugs, alcohol abuse, maternal infection)
• Concerns of exposures during pregnancy
• Preconceptual counseling
• Unexplained pregnancy loss
• Abnormal prenatal hormone screen
• Abnormal fetal ultrasound
• Cancer  

Cancer Diagnosis 

Studies of chromosome rearrangements in cancer have proven that cancer is caused by a progressive series of genetic changes. We now know that specific chromosomal changes are associated with, and etiologically related to, most types of cancer. Chromosome analysis of tumor cells has very important diagnostic and management implications. Identifying a specific chromosome change allows the attending physician to make a specific diagnosis and let him/her choose the most effective therapy. Our Cytogenetic Laboratory performs approximately 1,000 such diagnostic studies per year and many more disease monitoring procedures, including the use of FISH technology. 

Adult Onset Disorders

Many "common" adult conditions such as diabetes, atherosclerosis, strokes/heart attacks, cancer,  hypertension and mental illness have been shown to have a genetic basis. Persons with a family history of these and many other such condition could benefit from genetic counseling and possible predispositional testing. 

DNA Studies

The number of genetic diseases which can now be detected and diagnosed by DNA studies is rapidly increasing. Many of these can be accomplished at the Munroe-Meyer Institute for Genetics and Rehabilitation. Others can be diagnosed only at laboratories specializing in these diseases. If the required DNA studies cannot be accomplished at UNMC, we can direct  them to the appropriate laboratory or cryopreserve cells until the needed studies are available. 

Scheduling

Evaluation and testing may be scheduled during working hours (402) 559-6418 or (800) 656-3937. Staff are available on an on-call basis on weekends, holidays, and after hours to handle emergency situations. Test results are provided  as soon as possible. 

Pricing & Payment

Our prices are competitive with all commercial laboratories and clinical service centers in the nation. Most insurance companies reimburse for genetic services. Our business office will work with patients on payment schedules. 

Statewide Genetics Clinics