Start main page content

Laboratory Services

The Division runs the largest diagnostic genetics service in South Africa. We provide genetic services to both the private and State hospital sector, with the majority of our services being delivered in the State sector. 

Please find more information about the different tests offered by each laboratory here:


Molecular and Diagnostic Testing

Carrier detection, confirmation of clinical diagnosis and prenatal diagnosis are becoming possible for an increasing number of single gene disorders.

The Molecular Laboratory remains the largest diagnostic laboratory in the country, performing specialised testing for more than 40 genetic disorders, including almost 80% of tests offered nationally. The majority of referrals are received from State hospitals, with a significant number from the private sector, and from outside of South Africa. The laboratory participates and excells annually in the European Molecular Genetics Quality Network (EMGQN) external quality assessment scheme.

Lab Manager - Ms Fahmida Essop
Contact: 011 489 9217

DNA Profiling & Biochemistry

Accurate determination of parenthood can be extremely important for the material and mental well-being of a child and its real and possible parents. Fortunately paternity (and maternity) testing has become an extremely accurate science and one with which the Divison of Human Genetics has been involved for more than twenty years.

The main activities of this laboratory include parentage testing and kinship testing. Tests for inherited biochemical abnormalities are done by the Biochemistry Laboratory.

Lab Manager - Ms Mahlatse Moremi
Contact: 011 489 9234

Cytogenetics Laboratory
  • The Cytogenetics Laboratory specialises in pre- and postnatal diagnosis and is divided into two sections-Conventional and Molecular Cytogenetics.
  • Conventional Cytogenetics involves routine karyotyping and special staining on peripheral blood, amniotic fluid and chronic villus samples. Postnatal karyotyping will only be done by prior arrangement and consultation.
  • Molecular Cytogenetics involves use of various techniques to visualise one or more specific regions or whole genome within the chromosomes. Molecular Cytogenetics techniques include quantitative fluorescence- polymerase chain reaction and array comparative genome hybridisation


Ms Lindokuhle Masehlele
[T] 0114899229