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 - 4

Total - 29

Teaching language



Available soon


Molecular Diagnostics: Fundamentals, Methods and Clinical Applications

Lela Buckingham, Maribeth L. Flaws

F.A Davis Company, 2011


Molecular Diagnostics: Techniques and Applications for the Clinical Laboratory

Wayne W. Grody, Robert M. Nakamura, Frederick L. Kiechle, Charles Strom

Academic Press, 2010


Molecular Diagnostics: For the Clinical Laboratorial

William B. Coleman, Gregory J. Tsongalis

Humana Press, 2006


Fundamentals of Molecular Diagnostics,

David E. Bruns MD, Edward R. Ashwood MD, Carl A. Burtis PhD


Diagnostic Techniques in Genetics

Jean-Louis Serre

John Wiley and Sons, Ltd, 2006

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



Molecular Diagnostics

1.Genetic Test

Prenatal Diagnosis

Molecular Cytogenetics

Biological samples: harvesting and processing.

Molecular Biology Laboratory

1.Molecular Biology Techniques in Diagnostics

2.Strategies in Genetic Diagnostics

3.New Technologies for Genetic Diagnosis





Fusion transcripts detection in CML


Programs where the course is taught: