Molecular Diagnostics


The objective of this course relates to the knowledge of the technologies applied to genetic diagnosis either in area of molecular biology or modern cytogenetics. It is intended thatall students understand the processing of a biological samplefrom the entrance into a laboratory, their analysis and results interpretation. New technologies will also be addressed in the area of nanobiotechnology for detection of nucleic acids.

General characterization





Responsible teacher

Maria Alexandra Núncio de Carvalho Ramos Fernandes


Weekly - 2

Total - 34

Teaching language



Available soon


1. Principles and Applications of Molecular Diagnostics. Nader Rifai, Andrea Rita Horvath and Carl T. Wittwer. Elsevier. 2018. 

2. Textbook of Clinical Chemistry and Molecular Diagnostics. Nader Rifai. Saunders. 2017.

3. Molecular Diagnostics: Fundamentals, Methods and Clinical Applications Lela Buckingham, Maribeth L. Flaws F.A Davis Company, 2011.

4. Molecular Diagnostics: Techniques and Applications for the Clinical Laboratory. Wayne W. Grody, Robert M. Nakamura, Frederick L. Kiechle, Charles Strom, Academic Press, 2010

5. Molecular Diagnostics: For the Clinical Laboratorial. William B. Coleman, Gregory J. Tsongalis. Humana Press, 2006

6. Fundamentals of Molecular Diagnostics, David E. Bruns MD, Edward R. Ashwood MD, Carl A. Burtis PhD. Sauders, Elsevier, 2007

Teaching method

Students will have at their disposal powerpoint presentations (in English) of the classes (different topics of discussion as well as scientific paper important to their formation).

Laboratorial classes: Protocols for early assessment of the work to be performed

Evaluation method

Theoretical Exam - 60% of the final grade (> 9.5 valores)

Laboratorial classes report - 40%

Each component should have a grade above 9,5 to be approved.

Laboratorial classes are mandatory

After approval to the UC - exam to 100% of the final grade (oral including all program)

Subject matter



1. Molecular Diagnostics: concpets and introduction to Genetic Testing

2. Prenatal Diagnosis

3. Molecular Cytogenetics

4. Biological samples: harvesting and processing.

5. Molecular Biology Laboratory

 - Molecular Biology Techniques in Diagnostics. Applications.

 - Strategies in Genetic Diagnostics. Applications.

 - New Technologies for Genetic Diagnosis. Applications.

6. Nanotechnology for molecular detection




Fusion transcripts detection in CML


Programs where the course is taught: