20th February 2024

Background

DNA analysis is critical to aid with the diagnosis of genetic disorders. Recent developments in scientific methods have altered how genetic mutations are investigated, and this remains an evolving field. Candidates are not expected to know specific details but to understand the basic techniques of detecting genetic mutations.

Samples of a patient’s tissue are required for testing, and this can be obtained from blood, buccal mucosa or within affected tissues. Prenatal testing for foetal genetic abnormalities can be performed on amniotic fluid or chorionic villus samples. Genetic testing can be carried out in a variety of methods: