Genetic and Molecular Diagnostics

Genetic information is stored as DNA, or in some viruses as RNA. This information is translated into functional proteins which determines the development of an individual (human, bacterial, viral or otherwise). Disruption of the normal DNA sequence can impact on health and disease. Genetic information can be transmitted from generation to generation, resulting in possible familial risks for disease.

Molecular diagnostics may be defined as the detection and/or analysis of DNA or RNA (even the expressed protein) to gain clinical information. It is a fairly new field compared to standard laboratory diagnostic techniques (e.g. chemistry and microbiological methods), but rapidly evolving into a game changer, profoundly benefiting patients.

Two distinct types of clinical questions can be addressed: pathogen detection and genetic testing. Infectious agents (including antibiotic resistant bacteria) can be identified within hours compared to days. Optimising treatment leads to improved patient care, decreased hospitalisation periods and reduced costs. Treatment response can be monitored (e.g. HIV viral loads) and resistance to antimicrobials may be detected.

The analysis of patient genetic material may yield information regarding the presence, absence or carriership of hereditary disorders, responsiveness to particular drugs, or relationships (such as paternity). Cancer cells can be detected and analysed, giving insight into therapy response, progression and relapse.

PathCare is a dynamic laboratory. We continually invest in the latest technology to offer the most accurate results and rapid turnaround times. We invest in staff to ensure that we offer you appropriate expertise and advice.

Our molecular diagnostic service already consists of a wide spectrum of testing and includes:

  • Infectious diseases (e.g. respiratory & meningitis pathogen panels, HIV & Tuberculosis)
  • Molecular diagnostics of tumours for pharmacogenomics and prognostication (e.g. KRas and NRas analysis of colon carcinoma), and cases of tumours with a possible familial risk (e.g. BRCA1/BRCA2 in cases of breast cancer)
  • Genetic studies in the prenatal phase (e.g. trisomy 21 (Down syndrome))
  • Genetic studies for inherited conditions (e.g. cystic fibrosis)

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Our team of professionals with expertise in this field: