Home / Knowledge Centre

Knowledge Centre

Plain-language articles for patients and families and guides for healthcare professionals.

Article

Patients and Families

From DNA to Diagnosis: How Genetic Testing Works

For the patient, a genetic test usually feels like a short conversation, a small blood sample, and a report a few days or weeks later.

Article

Patients and Families

Inside the Womb: The Role of Genetic Testing in Prenatal Diagnosis

Screening tests such as the double marker, NIPT and ultrasound tell parents whether their baby might be at higher risk of a genetic condition.

Article

Patients and Families

What Is NGS, and How Does It Help Cancer Patients?

Many cancer patients today hear their oncologist recommend an “NGS test”.

Guides For Professionals

Guide Healthcare Professionals

Why RNA Matters in Tumour Profiling

Gene fusions are among the most important targets in precision oncology. They occur when part of one gene joins part of another, producing an abnormal protein that drives cancer growth.

Guide Healthcare Professionals

Chromosomal Microarray as a First-Tier Test

For decades, the karyotype was the standard first test for children with developmental delay, intellectual disability or birth defects.

Guide Healthcare Professionals

Screening or Diagnosis? Understanding Prenatal Tests

Prenatal genetic testing has expanded rapidly, and the range of options can be confusing.

Guide Healthcare Professionals

Understanding Variants of Uncertain Significance

Genetic tests that analyse many genes frequently identify variants whose effect on health is not yet known. These are called variants of uncertain significance (VUS).