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

 

Specimen Requirements

• 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

 

Peripheral Blood

• Aseptically draw 1-3 ml venous blood into a sodium-heparin vacuutainer and mix well.
• Do not use EDTA or other anticoagulants..
• Please do not open the container

 

Bone Marrow Aspirate

• 1-2ml of aspirate is transferred into a sodium-heparin vacuutainer and mix well.
• Do not use EDTA or other anticoagulants
• Please do not open the container

 

Products of Conception, spontaneous abortions, fetal demise or stillbirth

• 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.

 

Placenta

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.

 

Turnaround Time (TAT)

The results will be ready after 16 days and will be dispatched through courier. The laboratory staff of Genetika is available for telephone consultation regarding utilization of the services provided by our facility, assistance in choosing the proper test, questions about appropriate specimens, testing procedures, and the interpretation of results.