University of the Free State UFS Department of Human Genetics

Who is the Division of Human Genetics?

The Division of Human Genetics provides a quality diagnostic service to the private and public sector. Genetic testing is mostly centralised and we serve more than 49 laboratories from all nine provinces in South Africa and parts of Africa. The division consists of three highly specialized laboratories and skilled staff.  We offer a routine diagnostic service in both constitutional defects or birth defects and acquired haematological malignancies.

Laboratory services

• The molecular genetics laboratory offer mostly Polymerase Chain Reaction (PCR) based testing in various genetic diseases.Presently we are the referral laboratory on national level for familial breast cancer mutation screening and diagnosed more than 1500 patients. We recently implemented the use of Next Generation Sequencing (NGS) in breast cancer patients and more than 600 patients have had full screen of the two disease-causing genes, BRCA 1 and BRCA 2.Collaboration between the NGS facility of the UFS and the National Health Laboratory services (NHLS) is in the pipeline and will be beneficial for both service delivery and research.
• Recent advances in molecular genetics provided for innovative diagnostic tools and better clinical management. During the past 8 months we improved our prenatal testing by introducing QF-PCR with a turn-around-time of less than 48 hours. Most constitutional Fluorescent in situ hybridization (FISH) has been replaced with fragment length analysis, the so-called and the Multiple Ligation Probe Analysis (MLPA) analysis with the resolution power to identify more than 50 gene defects underlying developmental delay in a single test.
• Conventional cytogenetics remains the golden standard in chromosomal abnormalities and we deploy state-of-the-art semi automatic karyotyping systems enhancing resolution for optimal diagnosis.The cytogenetic laboratory is the referral laboratory for Fanconi anaemia testing.

Education and Research

• We are involved in the molecular diagnosis of familial breast cancer for the past 20 years and identified various founder and familial mutations.
• We offer post graduate studies in M.Med.Sc.(Human Genetics) and Ph.D.(Human Genetics).

Contact details

Head of Division: Prof Magda Theron
T: +27 51 405 3047