Chromosome Analysis

Chromosome Analysis (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

For the specimens listed below, sterile transport media (RPMI) may be obtained from the Cytogenetics Lab during work hours (859-257-3736). After hours it may be obtained from Lab Central Receiving (859-323-5431). 

  • Products of Conception Specimen (Abortus and Autopsy Specimens
    • Less than 12 weeks gestation: Placenta (chiorionic villi) and identifiable fetal parts
    • Greater than 12 weeks gestation: 
      • 2 - 3 mL unclotted cord or cardiac blood in sodium heparin
      • 10 mm x 10 mm x 10 mm placenta sample fetal sid enear the site of the cord insertion
      • Lung*
      • Kidney*
      • Skin*: obtain from a central location rather than from a distal location to enhance cell viability and likelihood of results
    • *Specimens should be 5 mm x 5 mm x 5 mm or as large as feasible given fetal/patient size. Place each specimen in a separate sterile container with RPMI media and label with source fo specimen. Containers with media can be obtained from the lab. In the absence of media, place specimen in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative. 
    • If fetal demise occurred more than 48 - 72 hours prior to retrieval of tissue and delivery to the lab, fetal tissue is unlikely to grow. In the case of prior fetal demise, placenta is most likely to grow.
    • The cytogenetics lab prefers to recevie the placenta or fetus in its entirety if possible. The lab will obtain the required tissue sterilely and will transport the remainder of the specimen to any other labs as requested. If sections are taken, they should be placed in sterile transport media (RPMI). 

  • Skin Biopsy Specimen
    • A 4 mm x 4 mm x 4 mm punch biopsy is preferred. The punch biopsy should be deep enough to include dermis. If Betadine is used to sterilize the skin surface, remove all traces of Betadine on the skin with isopropyl alcohol prior to the biopsy. Place the specimen in a sterile container with RPMI media. Sterile containers with appropriate media can be obtained from the lab. 

Establishing a fibroblast cell line or growth of additional cells for biochemical/DNA testing on products of conception and skin biopsy specimens may be performed by contacting the lab at 859-257-3736. 

Constitutional Requisition