Msc in Clinical Laboratory Genetics

General Objectives of the Course

With the implementation of this course, the student at the end of the course should be able to:
1. Know the history and evolution of human genetics and the relationship with the area of Clinic Laboratory Genetics (CLG).
2. Analyze the basic biological mechanisms associated with human genetics, namely the molecular bases of Mendelian Inheritance, non- Mendelian inheritance and complex disorders.
3. Understand the basic concepts of clinic genetics.
4. Correlate the genotype with phenotype, stressing its importance in the clinic.
5. Identify, analyze and select different Technologies for CLG particularly in Cytogenetics, Molecular Cytogenetics, Molecular Genetics and Genomics, Biochemistry Genetics.
6. Integrate and interpret the results of different technologies within the CLG.
7. Understand and analyze the role of CLG in the context of prenatal diagnosis and reproduction/infertility.
8. Describe the molecular mechanisms involved in carcinogenesis in both sporadic and hereditary cancer, referring the role of oncogenetics, epigenetics, tumor cytogenetics and different technologies, including the
“omics” approach.
9. Understand the basic concepts of population genetics and its role in the etiology of diseases of specific
population groups and integrating this knowledge into primary prevention and public health.
10. Understand the basic concepts of forensic genetics and its specific characteristics in the context of laboratory Genetics.
11. Demonstrate the central role of Bioinformatics concepts in the context of CLG, namely analyzing tools applied to the genotype/phenotype relationship.
12. To know the principles of good laboratory practices and quality control.
13. To know the standards of good practice of genetic counseling, integrating them in the context of the CLG.
14. Understand the specifics and regulation in the context of biobanks.
15. To know the Portuguese legislation and regulation within the clinical genetics.
16. Integrate laboratory management in the context of diagnosis in CLG.
17. Emphasize the need for teamwork and skills in the field of communication and ethics.

Admission Requirements

a)Bachelors or masters in Medicine, Dental Medicine, Pharmaceutical Sciences, Biochemistry, Biology, Biomedical Engineering, Molecular Genetics, Biomedical Pharmacy, Medicinal Chemistry, Health Sciences or other have related degrees considered relevant by the Scientific Council of FMUC;
b) Holders of foreign higher academic degree, following the 1st cycle of studies organized according to the principles of the Bologna Process, under the same national conditions.
c) Holders of a foreign higher academic degree that is recognized as meeting the objectives of the graduate degree by the Scientific Council of FMUC;
d) Holders of an academic, scientific or professional curriculum that is recognized as attesting the capacity to carry out this cycle of studies by the Scientific Council of FMUC.

Candidates should check the admission requirements available on this site, in addition to the information provided here.

Professional Goals

An advanced training in Clinical Laboratory Genetics will allow the training of
specialized human resources for diagnostic, research and development (R & D) areas in public service sectors (hospitals, state and university laboratories) and private sectors and national or international industry, as well as agencies and governmental and regulatory organizations, namely: Clinical Genetics Laboratories; Genetics laboratories Forensic science; Public Health Laboratories; Pharmaceutical, cosmetic and biotechnology industries; Industries and enterprises of molecular diagnostic development; Consultancy in government and regulatory organizations; Human Resources for Teaching and Research in Human Genetics Scientific Field; Specialized Human Resources for Laboratory quality control and certification area in the field of clinical genetics.

Mode of Study

Daytime. Full-time, Face to face

Teaching / Evaluation language(s)

Portuguese/ English

Examination Regulations, Assessment and Grading

As assessment is a pedagogical activity inseparable from the teaching process, its aim is to establish the students' competencies and knowledge, their critical sense, ability to recognize and resolve problems, as well as their written and oral presentation skills.
Students may only register for exams for classes they are currently registered for under the terms of number 6 of article 4 of the University of Coimbra Pedagogical Policy. The following are examples of assessment items:
Oral or written exams, written or practical work, individual and group projects that may require an oral defense, as well as class participation. Assessment for each class may include one or more of the above mentioned items.
Grading is based on a scale of 0 to 20 and a grade of 10 is required to pass. Whenever the grade comprises more than one item, the final grade is calculated by taking into account the relative weight of each item according a formula published in the course outline under the terms of number 2 of article 7 of the UC
Pedagogical Policy.

Learning Objectives and Intended Skills

1. Recognize the importance of basic biological mechanisms involved in human genetics and its relationship with Clinic Laboratory Genetics (CLG), postulating the underlying mechanisms to the disease risk of recurrence.
2. Explore different technologies both in the context of the practical methodologies or in the interpretation of clinical laboratory genetic results.
3. Be able to outline and develop methodological and technological strategies for the realization of a laboratory genetic diagnosis and reporting of results.
4. Be able to outline, develop and do research work in the field of human genetics.
5. Be able to correlate the information from the genotype with phenotype in different clinical contexts.
6. Recognize the importance of human genetics in the field of forensic medicine and apply different methodologies in the context of forensic genetics.
7. Be able to apply different bioinformatic tools and statistical methodologies in laboratory genetics.
8. Be able to recognize the importance of population genetics, correlating it with its importance for health.
9. Be able to develop/improve relationship skills, understanding and communication in the laboratory and with the clinicians.
10. Apply rules, guidelines, good laboratory practice and regulation, as well as the ethical principles in the context of GCL.
11. Be able to understand about the limitations of the clinical/medical-laboratory knowledge.

Course Coordinator(s)

Isabel Maria Marques Carreira

Maria Joana Lima Barbosa Melo

ECTS Departmental Coordinator(s)

Maria Joana Lima Barbosa Melo

Recognition of Prior Learning

The recognition of prior learning is carried out according according to the Credits for Previous Learning and Work Experience Policy of the University of Coimbra.

Qualification Requirements and Regulations

The legal framework for the qualification is established by the decrees: Decree-Law nr 74/2006, 24th March, in its current wording.

Graduation Requirements

Successful completion of curricular units with a final total of 120 ECTS, including a dissertation or internship report with public discussion.

Access to Further Studies

The individuals with a Master in Clinical Laboratory Genetics have additional
skills to apply to a PhD program.

Study Programme

Clinical Laboratory Genetics

Academic year

Course Type
2nd Cycle Studies - Advanced Specialisation Master Programme

DGES Code: MB03

Qualification Awarded: Mestre

Duration: 4 Semester(s)

ECTS Credits: 120.0

Category: Advanced specialization second cycle


Call for Applications


1st Semester
Start date: 11-09-2023
End date: 16-12-2023
2nd Semester
Start date: 05-02-2024
End date: 23-05-2024


Agência de Avaliação e Acreditação do Ensino Superior
2019-07-31 a 2025-07-30
Direcção Geral de Ensino Superior

Nº Registo: R/A-Cr 50/2019