Molecular diagnostics -Haemostasis and thrombosis

Details

Title

Molecular diagnostics -Haemostasis and thrombosis

Type

Stage Two

Module code

HLS175

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of molecular diagnostics, be able to:

• analyse, synthesise, evaluate and apply knowledge
• perform, adapt and master a range of technical and clinical skills and procedures
• demonstrate the attitudes and behaviours necessary for professional practice as a consultant clinical scientist dealing with the complexities, uncertainties and tensions of professional practice at this level.

Knowledge and understanding

By the end of the training period the trainee will be able to demonstrate the ability to analyse, evaluate and synthesise relevant knowledge and its application to their professional practice in relation to

• DNA structure and gene expression, organisation of the human genome, inheritance, mutation mechanisms
• the methodology, principles and practice, assay design, trouble-shooting: PCR, linkage analysis, mutation screening, DNA sequencing
• the genetics of disorders of haemostasis and thrombosis and the role, application and clinical interpretation of genetic diagnosis, family studies/prenatal diagnosis and genetic counselling: haemophilia A, haemophilia B, von Willebrand disease, factor XI deficiency and ‘rarer bleeding disorders’, inherited platelet disorders, thrombophilia (FV Leiden, prothrombin G20210A, AT/PC/PS deficiencies).

Technical and clinical skills

By the end of the training period the trainee will be able to demonstrate a critical understanding of current relevant research, theory and knowledge and its application to the performance, adaptation and mastery of the following technical procedures and laboratory skills:

• core knowledge and understanding of human molecular genetics
• knowledge of technical and practical aspects of molecular biology methods for the investigation of haemostasis and thrombosis
• appropriate use of molecular biology investigations to establish genetic diagnosis and to produce a fully interpretative clinical diagnostic laboratory report