Genetics (RAD_005)
About Study Course
Learning outcomes
1.Genetic pathologies that affect male reproductive function: Kallmann syndrome, cystic fibrosis, etc. Diagnostics, strategy, treatment. Transmission risk for the progeny.
Karyotype changes, their effect on reproductive function (Klinefelter syndrome, translocations, etc.). Transmission risk for progeny. Strategies.
Indications for the performance of various genetic methods in reproductive medicine (karyotyping, FISH, etc. methods) , the impact of their results on reproductive strategies and treatments;
Preimplantation genetic screening and preimplantation genetic diagnostics (PGS, PGD) at the male and female infertility. Treatment strategy for the relevant genetic pathologies;
Y chromosome microdeletions, their relation to sperm quality, determination of indications. Transmission risk for progeny. Strategy, treatment methods.
1.Performs DNA extraction from blood samples;
Performs Y chromosome microdeletions by PCR method;
Performs determination of karyotype in blood samples;
Determines CFTR gene mutations;
Performs PGT-A method
1.Knows genetic pathologies that affect reproductive function;
Diagnoses the genetic causes of infertility, performs genetic “counseling in the cases of genetic pathologies, that are connected with reproductive health and family planning;
Assesses the risk of genetic transmission in the cases of genetic pathologies, especially in medical fertilization procedures, and recommends an optimal strategy.
