Module Overview

Molecular Diagnostics

This module aims to evaluate the use of molecular tools in the diagnosis of inherited and acquired genetic diseases. The module will focus on the application of modern and emerging technologies in the molecular diagnostic laboratory and aims to develop a critical awareness in the student of the technologies available and the application of those technologies to the detection and diagnosis of genetic alterations.

Module Code

BIOL 4200

ECTS Credits


*Curricular information is subject to change

The types and effects of mutations causing genetic diseases.

A selection of genetic diseases will be reviewed, focusing on the gene(s) involved, causative mutations, the effects of the mutations on protein function and the challenges involved in detecting the mutations.

Molecular technologies reviewed will include but are not limited to;




quantitative real time PCR,

Real-time probe and dye chemistries and applications

Sanger DNA sequencing

next generation sequencing - whole genome sequencing, transcriptome / exome sequencing and targeted panel sequencing

Microarray analysis – gene expression arrays, CGH arrays, methylation arrays, protein arrays

Isothermal amplification methodologies

POC DNA detection technologies


A series of practical laboratory sessions will be undertaken to complement the theoretical aspects of the module.

Lectures / tutorials

Student-directed reading and on-line education.

Laboratory practicals

Module Content & Assessment
Assessment Breakdown %
Formal Examination60
Other Assessment(s)40