Diagnostica avanzata di laboratorio biosanitario
A.Y. 2025/2026
Learning objectives
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.
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.
Expected learning outcomes
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.
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.
Lesson period: Second semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course can be attended as a single course.
Course syllabus and organization
Single session
Responsible
Lesson period
Second semester
Course syllabus
Module: Medical Genetics
Lecturers: Full Professor Monica Miozzo (Full Professor, MEDS-01/A), Dr Laura Fontana (Tenure-Track Researcher, MEDS-01/A)
Educational Objectives
The Medical Genetics course 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, 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.
Expected Learning Outcomes
By the end of the module, students will have acquired foundational knowledge in the following areas:
- NGS techniques and platforms (e.g. Illumina SBS, Nanopore), including library preparation, sample loading, and data file analysis using validated diagnostic software.
- Chromosomal and SNP arrays for the investigation of genomic anomalies, and classification of structural variants following ACMG guidelines.
- Molecular diagnosis of triplet repeat expansion disorders (e.g. Fragile X syndrome) and interpretation of results.
- Sanger sequencing and first-level testing (e.g. for cystic fibrosis).
- Clinical report drafting, including result interpretation and adherence to guidelines.
Programme Content
Formal Teaching (1.5 CFU, 12 hours):
- NGS sequencing (Illumina SBS, Nanopore): platform output, whole genomes, exomes, and virtual panels; library preparation, sample loading, data analysis, and validated software pipelines for diagnostic use; genetic variant classification databases (ClinVar, OMIM, Varsome).
- Chromosomal and SNP arrays: chromosomal analysis in prenatal and postnatal settings; structural variant classification using specific databases (e.g. DECIPHER, ClinVar) based on ACMG guidelines; evaluation of uniparental disomy via SNP array.
- Triplet Repeat Expansion Testing: diagnostic methodology for Fragile X syndrome, result interpretation and clinical implications.
- Sanger Sequencing and Specific Tests: capillary sequencing and first-level tests for cystic fibrosis.
- Report Writing: guidelines for clinical reporting; integrated interpretation of genetic findings.
Practical Teaching (0.5 CFU, 8 hours):
- Karyotype Analysis: preparation, reconstruction, and analysis using optical microscopy and dedicated software.
- FISH Techniques: protocols and execution of interphase and metaphase FISH.
- CGH Array Techniques: sample preparation and analysis.
- Molecular Testing: automated DNA extraction, quality assessment via capillary electrophoresis, NGS library preparation and sample loading; execution and analysis of targeted tests (e.g. cystic fibrosis, Fragile X).
Module: Clinical Biochemistry
Lecturers: Associate Professor Cristina Alessandra Tringali (BIOS-09/A), Associate Professor Alessandro Rufini (BIOS-09/A)
Learning Objectives
The clinical biochemistry course 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.
Expected Learning Outcomes
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.
Programme Content
Formal Teaching (1.5 CFU, 12 hours):
- The role of laboratories in the clinical context
- Organisation of biomedical laboratories
- Diagnostic laboratory workflow
- Machine learning and big data in laboratory diagnostics
- Biological samples for clinical analysis
- Automated haematological diagnostics
- Interpretation of complex biochemical profiles (lipid, protein, enzymatic) of clinical relevance
- Evaluation of laboratory parameters and recent innovations through case studies
Practical Teaching (0.5 CFU, 8 hours):
Hands-on exploration of methodologies for the identification and quantification of circulating biomarkers in clinical biochemistry laboratories (e.g. immunoassays, PCR, electrophoresis).
Module: Clinical Microbiology
Lecturers: Full Professor Elisa Borghi (Full Professor, MEDS-03/A), Associate Professor Silvia Bianchi (MEDS-03/A)
Educational Objectives
The Clinical Microbiology course provides the opportunity to understand the correct methodological approach using advanced techniques of genomics and culturomics for the characterization of major medically relevant pathogens, to optimize diagnostic and therapeutic pathways.
Expected Learning Outcomes
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.
Programme Content
Formal Teaching (1 CFU, 8 hours):
1. The role of the clinical microbiologist and diagnostic pathways:
- Pre-analytical phase: from clinical suspicion to diagnostic request; sample collection, storage, and validity
- Analytical phase: direct and indirect diagnosis; culture-based and rapid non-culture-based techniques; serological tests; antibiograms and antibiotic susceptibility testing methods
- Post-analytical phase: microbiological reporting and interpretation
2. The role of the microbiologist in prevention activities: hospital and epidemiological surveillances
Practical Teaching (1 CFU, 16 hours):
Hands-on understanding of diagnostic workflows for infectious diseases, including:
- Indirect microbial diagnosis via immunodiagnostics
- Classical bacteriology: bacterial cultures and slide preparation/interpretation from various biological matrices
- Molecular biology in microbiology: syndromic panels and screening for antimicrobial-resistant organisms
- Application of NGS in microbiology: detection of drug resistance
Lecturers: Full Professor Monica Miozzo (Full Professor, MEDS-01/A), Dr Laura Fontana (Tenure-Track Researcher, MEDS-01/A)
Educational Objectives
The Medical Genetics course 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, 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.
Expected Learning Outcomes
By the end of the module, students will have acquired foundational knowledge in the following areas:
- NGS techniques and platforms (e.g. Illumina SBS, Nanopore), including library preparation, sample loading, and data file analysis using validated diagnostic software.
- Chromosomal and SNP arrays for the investigation of genomic anomalies, and classification of structural variants following ACMG guidelines.
- Molecular diagnosis of triplet repeat expansion disorders (e.g. Fragile X syndrome) and interpretation of results.
- Sanger sequencing and first-level testing (e.g. for cystic fibrosis).
- Clinical report drafting, including result interpretation and adherence to guidelines.
Programme Content
Formal Teaching (1.5 CFU, 12 hours):
- NGS sequencing (Illumina SBS, Nanopore): platform output, whole genomes, exomes, and virtual panels; library preparation, sample loading, data analysis, and validated software pipelines for diagnostic use; genetic variant classification databases (ClinVar, OMIM, Varsome).
- Chromosomal and SNP arrays: chromosomal analysis in prenatal and postnatal settings; structural variant classification using specific databases (e.g. DECIPHER, ClinVar) based on ACMG guidelines; evaluation of uniparental disomy via SNP array.
- Triplet Repeat Expansion Testing: diagnostic methodology for Fragile X syndrome, result interpretation and clinical implications.
- Sanger Sequencing and Specific Tests: capillary sequencing and first-level tests for cystic fibrosis.
- Report Writing: guidelines for clinical reporting; integrated interpretation of genetic findings.
Practical Teaching (0.5 CFU, 8 hours):
- Karyotype Analysis: preparation, reconstruction, and analysis using optical microscopy and dedicated software.
- FISH Techniques: protocols and execution of interphase and metaphase FISH.
- CGH Array Techniques: sample preparation and analysis.
- Molecular Testing: automated DNA extraction, quality assessment via capillary electrophoresis, NGS library preparation and sample loading; execution and analysis of targeted tests (e.g. cystic fibrosis, Fragile X).
Module: Clinical Biochemistry
Lecturers: Associate Professor Cristina Alessandra Tringali (BIOS-09/A), Associate Professor Alessandro Rufini (BIOS-09/A)
Learning Objectives
The clinical biochemistry course 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.
Expected Learning Outcomes
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.
Programme Content
Formal Teaching (1.5 CFU, 12 hours):
- The role of laboratories in the clinical context
- Organisation of biomedical laboratories
- Diagnostic laboratory workflow
- Machine learning and big data in laboratory diagnostics
- Biological samples for clinical analysis
- Automated haematological diagnostics
- Interpretation of complex biochemical profiles (lipid, protein, enzymatic) of clinical relevance
- Evaluation of laboratory parameters and recent innovations through case studies
Practical Teaching (0.5 CFU, 8 hours):
Hands-on exploration of methodologies for the identification and quantification of circulating biomarkers in clinical biochemistry laboratories (e.g. immunoassays, PCR, electrophoresis).
Module: Clinical Microbiology
Lecturers: Full Professor Elisa Borghi (Full Professor, MEDS-03/A), Associate Professor Silvia Bianchi (MEDS-03/A)
Educational Objectives
The Clinical Microbiology course provides the opportunity to understand the correct methodological approach using advanced techniques of genomics and culturomics for the characterization of major medically relevant pathogens, to optimize diagnostic and therapeutic pathways.
Expected Learning Outcomes
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.
Programme Content
Formal Teaching (1 CFU, 8 hours):
1. The role of the clinical microbiologist and diagnostic pathways:
- Pre-analytical phase: from clinical suspicion to diagnostic request; sample collection, storage, and validity
- Analytical phase: direct and indirect diagnosis; culture-based and rapid non-culture-based techniques; serological tests; antibiograms and antibiotic susceptibility testing methods
- Post-analytical phase: microbiological reporting and interpretation
2. The role of the microbiologist in prevention activities: hospital and epidemiological surveillances
Practical Teaching (1 CFU, 16 hours):
Hands-on understanding of diagnostic workflows for infectious diseases, including:
- Indirect microbial diagnosis via immunodiagnostics
- Classical bacteriology: bacterial cultures and slide preparation/interpretation from various biological matrices
- Molecular biology in microbiology: syndromic panels and screening for antimicrobial-resistant organisms
- Application of NGS in microbiology: detection of drug resistance
Prerequisites for admission
Students are expected to possess basic knowledge of genetic, biochemical, and microbiological mechanisms underlying major disease states, as well as a solid understanding of molecular biology and human genetics, Mendelian genetics, cytogenetics, genome structure, point and structural variants, and the pathogenic effects of genetic alterations.
Teaching methods
Lectures and practical sessions in diagnostic laboratories.
Teaching Resources
Course materials will be provided by lecturers. Educational resources available on the MyAriel platform.
Recommended textbook:
Medical Genetics
Genetica Medica by Dallapiccola & Novelli.
Clinical Biochemistry
Biochimica Clinica e Medicina di Laboratorio by Ciaccio & Lippi (Edises).
Clinical Microbiology
- Federici G. et al.: Medicina di laboratorio (McGraw-Hill)
- Laposada M.: Medicina di laboratorio (PICCIN)
- Antonelli G. et al.: Principi di Microbiologia Medica (Ambrosiana)
- Murray P.R. et al.: Microbiologia Medica (EDRA)
Recommended textbook:
Medical Genetics
Genetica Medica by Dallapiccola & Novelli.
Clinical Biochemistry
Biochimica Clinica e Medicina di Laboratorio by Ciaccio & Lippi (Edises).
Clinical Microbiology
- Federici G. et al.: Medicina di laboratorio (McGraw-Hill)
- Laposada M.: Medicina di laboratorio (PICCIN)
- Antonelli G. et al.: Principi di Microbiologia Medica (Ambrosiana)
- Murray P.R. et al.: Microbiologia Medica (EDRA)
Assessment methods and Criteria
Assessment will be conducted through a written examination aimed at evaluating the student's ability to address and solve diagnostic and methodological problems.
BIO/12 - CLINICAL BIOCHEMISTRY AND MOLECULAR BIOLOGY - University credits: 2
MED/03 - MEDICAL GENETICS - University credits: 2
MED/07 - MICROBIOLOGY AND CLINICAL MICROBIOLOGY - University credits: 2
MED/03 - MEDICAL GENETICS - University credits: 2
MED/07 - MICROBIOLOGY AND CLINICAL MICROBIOLOGY - University credits: 2
Practicals: 32 hours
Lessons: 32 hours
Lessons: 32 hours
Professor(s)
Reception:
by appointment
San Paolo Hospital, blocco C, 8th floor, room 813
Reception:
By appointment by mail/phone
via F.lli Cervi 93-LITA Segrate