Services
Cyropreservation Facility
This facility is responsible for the collection, processing and storage in liquid nitrogen of stem cells taken from patients suffering from haematological conditions such as Aplastic Anaemia, Fanconi’s Anaemia and a number of cancers such as Myelomas, Lymphomas and Leukaemias. These are mostly autologous and are harvested by SANBS staff at the apheresis clinics.
The facility collects processes and stores stem cells from allogeneic patients, e.g. bone marrow registry patients or HLA matched-related siblings.
The duties also include assisting in the re-infusion of frozen stem cells when requested by the clinician. The cells are transported by the staff member to the patient’s bedside where they are re-infused under clinical supervision.
Contact details
Cytogenetics Laboratory
011 761 9215/9264
Cytogenetic Testing
Chromosomes carry the genetic information needed for the normal development from the egg to adulthood. One set of chromosomes is inherited from each parent during fertilization. If too few or too many chromosomes are inherited the foetus will be abnormal.
During chromosome testing cells are cultured then analysed to see whether the number and arrangement of chromosomes is correct. The cells can be derived from amniotic fluid, solid tissue or blood.
Cytogenetic testing is requested by the patient’s doctor or a clinic sister.
1. Amniotic fluid
In the case of pregnant women at high risk of having a chromosomally abnormal child, an amniocentesis is performed between 14 and 18 weeks. A small volume of amniotic fluid is drawn off from around the foetus for culture and analysis. Fetal blood removed by cordocentesis, or chorionic villus samples are sometimes submitted as an alternative.
Amniocentesis results are usually available within 3 - 4 weeks.
The alphafetoprotein level is also routinely tested on amniotic fluid specimens to screen for neural tube defects. If this is significantly raised, then the acetylcholinesterase test is performed as a confirmatory test. This laboratory is the national reference lab for this test, which is positive in the presence of open neural tube defects.
2. Blood
In the case of adults and children who require chromosome testing, a small amount of blood is drawn, which is cultured and analysed. These results are usually available within a week
3.Tissue samples
In the case of an early miscarriage, products of conception are cultured, while tissue is removed from a fetus for culture in the case of a later miscarriage. Other tissue samples are also processed from time to time.
Results are given to the requesting doctor, and genetic counselling is offered to private patients at the SANBS headquarters in Pinetown
Hospital patients receive counselling at the genetic clinics that are held at some hospitals.
Contact details
Cytogenetics Laboratory
031 719 6607
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