Diagnostica avanzata di laboratorio biosanitario

The general objective of the course is to provide students with the foundational knowledge necessary
for a comprehensive understanding of the advanced diagnostic aspects of the Biomedical Laboratory
in the fields of medical genetics, clinical microbiology, and clinical biochemistry, disciplines covered
by medical specialty schools open to biologists. To this end, the course offers the opportunity to
understand and consciously use innovative technologies in the complexity of diagnostic and
preventive processes.
The Medical Genetics part aims to equip students with both theoretical and practical skills for
diagnostics in molecular genetics and cytogenetics. Students will learn to understand NGS analysis
methods, chromosomal arrays, and SNPs, Sanger sequencing, and to use genetic databases to
classify point and structural variants. They will also gain knowledge of specific diagnostic tests, such
as those for cystic fibrosis and fragile X syndrome, and acquire expertise in drafting clinical genetic
reports by integrating molecular and bioinformatic data.
The Clinical Microbiology part provides the opportunity to understand the correct methodological
approach using advanced techniques of genomics and culturomics for the characterization of major
medically relevant pathogens, in order to optimize diagnostic and therapeutic pathways.
The clinical biochemistry part provides students with knowledge concerning the clinical biochemistry
laboratory's role in the clinical field and its organization. It aims to describe the laboratory diagnostic
processes and to deepen some pivotal clinical biochemistry profiles.

By the end of the course, students will develop knowledge and skills in biomedical diagnostic
methodology, particularly in medical genetics, clinical microbiology, and clinical biochemistry. They
will also develop competencies to address and solve questions related to the diagnostic process,
with particular attention to subsequent professional application.
Medical Genetics Module. At the end of the course, the student will have acquired basic knowledge
on the following topics: next-generation sequencing (NGS) techniques; analysis of point and
structural variants; use of chromosomal arrays and SNP arrays for the study of genomic
abnormalities; molecular diagnosis of triplet expansions; principles and applications of Sanger
sequencing. Additionally, the student will be introduced to the main cytogenetic, molecular
techniques, and specific genetic tests, and will have the skills to interpret the results. The course will
also provide an overview of the clinical reporting process, and the student will gain the ability to
contribute to the drafting of clinical reports.
Clinical Microbiology Module. Students will learn how to handle and place clinical microbiology
laboratory investigations and understand the results of these investigations in relation to the
pathogen-host-environment relationship. They will also be able to assess the appropriateness of
diagnostic test requests, evaluate their clinical effectiveness, and estimate their impact on treatment
outcomes.
Clinical Biochemistry Module. At the end of the course, the students will learn the integration between
the clinical biochemistry laboratory and the medical field and understand the diagnostic potential and
limits of methods currently used in clinical biochemistry diagnostics. The students will be able to
perform some laboratory assays, critically analyse, correctly report and interpret the results.