Cytogenetics



Overview
The UK Clinical Cytogenetic Laboratory is certified through the Clinical Laboratory Improvement Act (CLIA), the College of American Pathologists (CAP), and is approved by the Childhood Oncology Group (COG). We provide chromosome analysis on a variety of specimens, including amniotic fluid, chorionic villus samples, tissue biopsies, products of conception, peripheral blood, bone marrow, lymph nodes and solid tumors. Cytogenetic studies are performed for prenatal diagnosis, to investigate infertility, to aid in identifying the cause of spontaneous abortions, to aid in determining the etiology of congenital anomalies, mental retardation, and learning disabilities, and to identify acquired chromosome abnormalities associated with neoplasia. 


Faculty
Sainan Wei, PhD, FACMGG
Director of Cytogenetics

Staff
Joanna Lyon, BS, CG (ASCP) - Lab Manager
Angela Williamson, BS, CG (ASCP) - Master Tech
Pamela Thompson, BS, CG(ASCP) - Master Tech

Facilities
CONSTITUTIONAL TESTS

1. Chromosome Analysis (Medical Genetics) (includes karotype)
May be performed on:

  • Peripheral Blood Specimen
    • Neonates 1-2 ml in sodium heparin
    • Children and adults 3-5 ml in sodium heparin
  • Products of Conception Specimen (Placenta, Fetal Tissue)
    • Cytogenetics Lab prefers to receive the placenta or fetus in its entirety if possible. The lab will obtain the required tissue sterilely and will transport the remainder fo the specimen to any other labs as requested. If sections are already taken, they should be placed in sterile Cytogenetics Transport Media (RPMI) which may be obtained from the cytogenetics lab during work hours. After hours, this media may be obtained from Lab Central Receiving (859-323-5431). 
  • Skin Biopsy Specimen
    • 4mm x 4mm x 4mm punch biopsy is preferred
    • The biopsy should be deep enough to include dermis
    • If betadine is used to cleanse the area, wipe it off with alcohol and let it dry prior to performing the procedure. Specimens should be placed in sterile Cytogenetics Transport Media (RPMI) which may be obtained from the cytogenetics lab during work hours. After hours, this media may be obtained from Lab Central Receiving (859-323-5431). 


2. Chromosome Analysis (Prenatal) (includes karotype)
May be performed on:

  • Amniotic Fluid
    • 20-30 ml divided among 3 sterile tubes
    • 1-3 ml of 'first draw' in a separate sterile tube
    • For Aneuploidy FISH testing (send out), amniotic fluid must be non-bloody
  • Chorionic Villus Specimen
    • 15-30 mg of tissue is optimal
    • 10 mg is the minimum acceptable sample
    • >10 mg is required if FISH, DNA, or biochemical testing is ordered
  • Cord (fetal) Blood
    • 1-2 ml in sodium heparin


3. Growth of Additional Cells for biochemical/DNA testing

  • May be requested for the following specimens: Amniotic Fluid, Chorionic Villus, Skin Biopsy, Products of Conception Specimens


4. Established Fibroblast Cells

  • May be frozen down viably at the discretion of the Director


5. FISH Analysis, Constitutional (Medical Genetics OR Prenatal)

  • May be performed on: peripheral blood, amniotic fluid, chorionic villus specimen
  • FISH analysis may be ordered as a FISH ONLY test or in conjunction with chromosome analysis. Specific FISH tests must be selected: D15S10 (Angelman Syndrome 15q11q13, HIRA (DiGeorge Sequence/Velo-Cardio-Facial Syndromes 22q11.2), SNRPN (Prader-Willi Syndrome 15q11.2), DXZ1/DYZ3 (X and Y centromere probes for mosaic turner syndrome with Y chromosome material), and SRY (Sex Determination).

 

ONCOLOGY TESTS

1. Chromosome Analysis, Oncology (Oncology)
May be performed on:

  • Bone Marrow in sodium heparin
  • Peripheral Blood (if WBC >15,000 and > 10% blasts)
  • Tumor/Tissue specimen


2. FISH analysis, Onoclogy (Oncology)

  • May be performed on: bone marrow, peripheral blood (if WBC >15,000 and > 10% blasts), tumor/tissue specimens
  • FISH analysis may be ordered as a FISH ONLY test or in conjunction with chromosome analysis.
  • For Multiple Myeloma FISH (new diagnosis or progression panels), 4-5 ml of bone marrow in sodium heparin is required.
  • Specific FISH tests must be selected. The following FISH panels along with an array of individual FISH tests are available: Pediatric/Adult AML panel, MDS panel, MPD panel, Pediatric/Adult ALL panels, CLL panel, MM panels (new diagnosis or progression are performed on a CD 138 cell sorted pellet, the sort requires a minimum of an additional 2 ml's of bone marrow. Not performed on peripheral blood specimens), Lymphoma panels, and an array of individual FISH tests. 


3. FISH Analysis, paraffin sections (FFPE) (Oncology)

  • ERBB2 (HER2) Gene Amplification Status
  • Deletion 1p36/19q13 for glial neoplasia
  • Lymphoma panel
  • MDM2
  • EWSR1
  • SYT-SS18
  • ROS 1
  • ALK
No