Molecular Diagnostics

Clinical Biochemistry

Decoding blood: cellular analysis and coagulation in laboratory medicine
Principles of hematological analysis
Pre-analytical variables: anticoagulants, sample stability, common sources of error
Parameters of CBC: RBC, WBC, platelets, indices (MCV, MCH, MCHC, RDW)
Basic principles of hemocoagulation and hints on coagulation markers

What urine reveals: chemical, microscopic, and clinical perspectives
Correct specimen collection: midstream urine, preservatives, handling
Physical and chemical examination (dipstick parameters)
Microscopic evaluation of urinary sediment: cells, casts, crystals, microorganisms
Renal clearance concepts and correlation with kidney function
Clinical interpretation in infections, kidney diseases, metabolic disorders

CSF analysis: laboratory exploration of neurological disease
Collection and types of CSF tubes, transport, and stability
Biochemical parameters: proteins, glucose, lactate
Cytological examination and patterns in inflammation, infection
Interpretation of CSF profiles in meningitis, autoimmune diseases

Biochemical parameters in neurodegenerative disorders
Seed Amplification Assays and innovative blood biomarkers in neurodegenerative diseases
Principles of Seed Amplification Assays (RT‑QuIC/PMCA)
Mechanism of prion-like protein amplification
Diagnostic applications in neurodegenerative diseases (α‑synuclein, prions, tau)
Specimen types: urine, blood, olfactory mucosa, CSF
Pre-analytical factors, interpretation of kinetics, clinical utility
Blood biomarkers for Alzheimer's disease.

Diagnosing rare diseases: problems and tracing.
- Clinical approaches
- Molecular approaches
- Biochemical approaches
o Metabolomics of biological specimens.
o Enzymatic assays.
o Immunoassays and immunohistochemistry.
Artificial intelligence and diagnosis of rare diseases.
Biobanking.
Insight into some rare diseases:
- Inherited disorders affecting erythrocytes.
- Inherited metabolic diseases.
- Inherited leukodystrophies.
- Newborn screening.
- Biochemical markers and diagnostic approaches.
- Blood typing for stem cell transplant.

Genetic testing

Specimen collection for genetic analyses
Types of genetic tests and their specific applications (diagnostic, predictive, presymptomatic, carrier, neonatal screening, pharmacogenetic, prenatal testing)
Methods to identify DNA variants: DNA sequencing (Sanger, NGS); MLPA and Q-PCR for detection of copy-number variants; Third generation sequencing
NGS applications: gene panels, clinical exome, whole exome sequencing and whole genome sequencing
Bioinformatic analyses of NGS data, filtering strategies and variants of unknow significance (VUS)
Genetic test reports, NGS limits and incidental findings
Microsatellite analysis for paternity and DNA fingerprint tests
Methodologies to detect pathological microsatellites in repeat expansions disorders (Repeat-primed PCR, Southern blot, Third generation sequencing/Optical genome mapping)
Methylation tests in imprinting disorders

Microbiology

Bacterial identification of clinical isolates: from lab to the bedside. Phenotypic and genotypic methodology for bacterial detection:
Define the importance of clinical isolates;
Evaluate the type of microorganisms and their incidence;
Define methods for phenotypic identification;
Define methods for genotypic identification;
Evaluate properly the molecular methodology for bacterial identification;
Define the antimicrobial susceptibility methods;
Evaluate the issues of the antimicrobial resistance.

Current technologies for the virological diagnosis (I):
To learn about the use of direct methods to detect the virus in the host: which, when and how;
To learn about the use of indirect methods to detect the virus in the host: which, when and how.
Current technologies for the virological diagnosis (II):
To learn about the diagnosis and monitoring methods of infections during pregnancy;
To learn about the diagnosis of the Central Nervous System Infections;
To learn about the diagnosis of Influenza and other respiratory infections.
To learn about the diagnosis of Papillomavirus.

Climate changes, environment, microbes and human beings interplay in newly emerging viral infections:
To understand the viral origins and evolution;
To understand which exogenous factors (environment) and how are involved in the viral evolution;
To understand which endogenous factors (virus) and how are involved in the viral evolution ;
To understand which host factors and how are involved in the viral evolution;
To learn which are the emerging viral infections: Zika virus, Chikungunya virus, other Flaviviruses, Ebola virus, Coronaviruses ;
To understand which and why some viral infections are re-emerging.