Clinical Genetic Testing Services

Cascade Testing

Cascade testing also known as familial testing, is a critical tool in clinical genetics, used to identify a pathogenic variant in biological relatives of a patient with said variant. Cascade testing can establish those at risk of inherited conditions by detecting a specific variant within the patients family.

Cascade testing uses a method called Sanger sequencing which enables targeted genetic screening of patients biological relatives for a specific pathogenic variant. This allows clinicians to detect carriers or affected individuals early - even before symptoms arise.

This approach not only facilitates timely interventions and personalised management treatment strategies but also enhances cost-effectiveness by focusing testing on specific variants. Cascade testing is essential for establishing preventive care, reducing disease burden and empowering families with actionable genetic information.

Table labeling markers showing individuals gender, if they are carriers, effected or uneffected by the patogenic variant.

Figure: Example of a family pedigree with an autosomal recessive disease.