Laboratory for Cytogenetics & Genome Research

Diagnostic Cytogenetics

  • Chromosome Analysis / Karyotyping
  • Chromosome Breakage Studies
  • Mutagen induced chromosome sensitivity studies to evaluate the DNA repair proficiency
  • Cytokinesis-block micronuclei assay to quantify the extend of somatic damages

Specimen Types for Chromosome Analysis / Karyotyping

  • Peripheral Blood
  • Bone Marrow Aspirate
  • Leukemic Blood
  • Products of Conception
  • Intrauterine death/aborted foetus
  • Each specimen must be clearly labeled with at least two patient identifiers such as patient name, age, sex, etc.
  • Each specimen must be accompanied by a paper test requisition including the following: First and last name, birth date, gender, name of referring physician, originating lab or clinic, clinical indication and tests ordered.
  • The clinical indication is required for appropriate cell culture parameters to be chosen
  • Samples should be sent as soon as possible to the Cytogenetics Laboratory with same-day or overnight transport preferable.
  • Samples should never be frozen or placed on ice
  • Aseptically draw 1-3 ml venous blood into a sodium-heparin vacuutainer and mix well.
  • Ensure accurate and clear labeling of the blood sample with patient information and collection details.
  • Avoid using EDTA or other blood-thinning agents, and do not open the container.
  • Store and transport the blood sample within recommended temperature and handling guidelines for reliable analysis.
  • Transfer 1-2 ml of aspirate into a sodium-heparin vacutainer and mix well.
  • Ensure aseptic conditions during the aspiration procedure.
  • Accurately label the vacutainer with patient details and collection information
  • Avoid using EDTA or other blood-thinning agents, and do not open the container.
  • Ascetically transfer two or three tissue bits to a sterile bottle containing normal saline or in container provided by Genetika
  • Kits with tissue transport media and a requisition form are available from the laboratory for convenient sampling and transport.

In cases of fetal demise, the placenta maintains cell viability longer due to maternal blood circulation; therefore, placental specimens are more likely to yield cell growth and therefore a cytogenetic result.

  • Ascetically transfer two or three tissue bits placenta from near the umbilical cord insertion site containing chorionic villi to a sterile bottle containing normal saline or in container provided by Genetika.
  • Kits with tissue transport media and a requisition form are available from the laboratory for convenient sampling and transport.