Molecular Diagnostics

Molecular diagnostics may be defined as the detection and/or analysis of DNA or RNA to gain clinical information. This rapidly expanding diagnostic field is a fairly new compared to conventional laboratory diagnostic techniques (e.g. chemistry and microbiological methods), but has rapidly evolved to have a profound and distinct benefit to patients. Three distinct types of clinical questions can be addressed through molecular diagnostics: pathogen detection and quantitative monitoring, genetic testing for inherited conditions, and somatic testing of tumour specimens for prognostication and treatment guidance.

PathCare is a dynamic laboratory. We offer an extensive menu of molecular diagnostic tests, and new tests are continuously being developed. We continually invest in the latest technology to offer the most accurate results and rapid turnaround times. We invest in staff and collaborate with internationally accredited laboratories to ensure that we offer you appropriate expertise and advice.

Infectious Diseases

Molecular diagnostic tools can enable the detection of infectious agents (including bacteria, fungi and viruses) with a higher sensitivity and faster turnaround time compared to culture-based methods, and allow the detection and monitoring of non-cultivable organisms.

Types of tests (view Test Dictionary for more information and an expanded test list):

- Single organism detection – including HIV, TB and HPV testing, etc.
- Disease monitoring – monitoring treatment response by viral load detection of HIV, and hepatitis viruses and human herpesviruses.
- Disease Panels – for detection of organisms associated with respiratory, meningeal, sexually transmitted and gastrointestinal infections.
- Anti-microbial resistance – HIV and TB drug-resistance testing.
- Difficult to culture organisms – Bacterial and fungal broad range sequencing-based tests.

Human Genetics

The analysis of patient genetic material may yield information regarding the presence, absence or carrier status of hereditary disorders, or the responsiveness to particular drugs (such as chemotherapy).

Types of tests (view Test Dictionary for more information):

- Molecular genetic testing – for diagnostic, carrier, predictive/presymptomatic or prenatal testing for single-gene disorders such as cystic fibrosis or hereditary breast and ovarian cancer
- Chromosomal genetic testing – karyotyping, FISH or microarray
- Non-invasive prenatal testing (NIPT) – to screen prenatally for chromosomal conditions such as Down syndrome, using a maternal blood sample
- Pre-implantation testing – also known as Preimplantation Genetic Diagnosis, or PGD, for couples at risk of having a child with a specific genetic disorder
- Newborn screening – used just after birth to identify genetic disorders that can be treated early in life

Tumour Profiling (somatic mutation testing)

Cancer cells from tumour tissue have unique genetic signatures. These genetic profiles can differ between cancer types, different tumour locations, or even different parts of the tumour. Cells from cancerous tissue can be analysed, giving insight into therapy response, progression and relapse. View our Test Dictionary for more information.