A genetic test can identify the harmful or pathogenic mutations (variants) that are responsible for causing disease and can provide a diagnosis or assess the risk of developing the disease in the future. They require a biological sample (blood, saliva or cheek swab) that is sent to a laboratory where the DNA is extracted for analysis. The method used to analyze the DNA depends on what the scientists are looking for.
Our latest infographic introduces you to the laboratory methods of genetic testing, and aims to make this complicated process easier to understand.
Topics covered in this infographic
- What is a genetic test?
- How is a genetic test performed?
- Types of genetic tests
- Test methods
- What genetic tests look for: changes to DNA or changes to chromosomes
- Molecular testing methods to detect changes in the DNA of genes
- Cytogenetic testing to analyze changes in chromosome structure