90940 - Clinical Laboratory Diagnostics

Learning outcomes

Describe the theoretical and methodological bases of cytology, cytopathology, immunohematology and genetic pathology. Discuss the application of cellular and molecular methodological approaches to the diagnostic process in human pathology. Interpret the results of diagnostic laboratory tests for the characterisation of major human disorders.

Course contents

(Module 1)

PRINCIPLES OF LABORATORY DATA INTERPRETATION

Diagnostic and biological variability, precision and accuracy, sensitivity and specificity, errors and methodology controls in laboratory clinical tests; reference intervals.

NEONATAL SCREENING

Principles and main application for phenylketonuria, congenital hypothyroidism, galactosemia, cystic fibrosis, widened screening.

The Clinical Laboratory in HAEMATOLOGY

Haematopoiesis; erythrocytes: physiology and pathology (anemias; haemoglobinopathies), platelets and red blood cells; definition and evaluation of: haematocrit, MCV, MCH, MCHC, RDW, reticolocytes count. Lab parameters for the diagnosis of anemias. Lab parameters for the evaluation of iron metabolism, transferrin, sideremia.

LABORATORY EVALUATION OF KIDNEY FUNCTIONALITY

Urine analysis: physical, chemical and sediment examination.

Kidney functionality markers: creatinin, creatinin clearance, azotaemia, uric acid, electrolytes.

LABORATORY EVALUATION OF LIVER FUNCTIONALITY

First level tests for the assessment of liver function: markers of cholestasis, protein synthesis and cytolysis.

GENETIC TESTING

Procedures and diagnostic applications for:

• o Biochemical techniques (for cistic fibrosis, phenilketonuria, thalassemias),
• o Molecular techniques: Indirect genetic tests (length polymorphisms, SNP); Direct genetic tests (for known and unknown mutations): ARMS PCR, MLPA, southern blotting, Microarrays, Real time PCR, Mass Array, CGH array, HRM, DHPLC.

LIQUID BIOPSY AND CIRCULATING TUMOR MATERIAL SEARCH: CELLS, DNA, RNA

(Module 2)

- The diagnostic laboratory in the evaluation of haemostatic function. Laboratory tests for the evaluation of platelet function, of the plasma coagulation phase and of the fibrinolytic system; laboratory tests for the definition of hypercoagulability. Physiopathology of disseminated intravascular coagulation (DIC); markers of activation of the coagulation system; markers of activation of the fibrinolytic system; markers of consumption of coagulation factors.

- Serum proteins. Electrophoretic separation of serum proteins; electrophoretic profiles associated with specific disorders; acute phase proteins and erythrocyte sedimentation rate (ESR). Serum proteins index of inflammation.

- Transfusion medicine. Blood type determination. The pre-transfusion tests. Complications of transfusions. Molecular tests in transfusion medicine.

(Module 3)

Practical laboratories concerning topics covered in module 1 & 2 including: normal and pathological blood smear, Eritrocyte sedimentation rate (ERS), laboratory of secondary hemostasis, blood group typing, direct tests for the determination of known mutations

Readings/Bibliography

Laboratory Medicine Diagnosis of Disease in Clinical Laboratory - Michael Laposata. McGraw-Hill, 2014.
ISBN 9780071805544

Teaching methods

Frontal classes, discussion of clinical cases. Teaching laboratories.

Assessment methods

Student learning will be checked at the end of the course through a written test divided into two parts. The first part consists in carrying out a test composed of 20 multiple choice questions with 4 possible answers, of which only one is correct; 1 point will be awarded for each correct answer, without any penalty in the event of a wrong or missing answer. The second part consists in the answer to 2 open questions, referring to each of the 2 modules; each answer will be awarded from 0 to 6 points based on the candidate's ability to present the arguments in a correct, concise and complete way. The maximum time for performing the test will be 50 minutes. The student needs to reach 18 points to pass the exam. The final grade will be derived from the sum of the points acquired in both parts. The examination is passed having acquired at least 18 points. Honors will be awarded to candidates who have achieved a total of 31 or 32 points. To take the test, students will need to register via AlmaEsami by the deadline set by the application and are required to know their Institutional credentials.

The results will be published on Almaesami in the students' reserved area by a date specified for each exam session and indicated on Almaesami. Students who wish to reject the grade must notify the commission within 2 working days from the publication. In absence of any notification the exam results will be registered.

Teaching tools

The slides shown during the lessons will be made available to Insegnamenti On Line. Access is reserved to Bologna University students.

Office hours

See the website of Lorenzo Montanaro

See the website of Marianna Penzo