Director: Carolyn Jones, MD, PhD		Manager: James Robinson

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The following specimens are accepted for diagnostic genetic evaluation:

• Amniotic Fluid
  Cytogenetic studies are performed for prenatal diagnoses of fetal chromosome anomalies.
• Blood
  Cytogenetic studies are performed on blood samples for all standard medical indications including birth defects, developmental disorders, and reproductive problems.
• Bone Marrow
  Bone marrow aspirates and bone cores are acceptable for cytogenetic analysis.
• Products of Conception
  Cytogenetic studies are performed on fetal tissue resulting from spontaneous abortion.
  
• Skin Fibroblasts
  Skin fibroblasts are processed for chromosome analyses in special circumstances, such as suspected mosaicism, or in post mortem cases in which blood is unavailable.

Some of the techniques used:

• Fluorescence in situ Hybridization
  This technique utilizes gene-specific probes for the detection of submicroscopic chromosome deletions and other chromosome rearrangements. It is applied for diagnoses of specific micro deletion syndromes (e.g., Prader-Willi, Angelman, Williams, Di George, and others).
• Interphase FISH Analysis
  This technique is performed in bone marrow specimens for the detection of gene rearrangements (BCR/ABL and PML/RARA) as well as for the sex chromosome constitution.