ABSTRACT
Infertility is a condition of disease character with multifactorial etiology. According to the World Health Organization (WHO), infertility is defined as the inability of a sexually active couple at reproductive age to achieve pregnancy within 1 year of unprotected intercourse. The main causes for male infertility include anatomical and developmental defects, ejaculatory failure, environmental toxicity, dysfunctional spermatogenesis, endocrine and immunological disturbances, systemic and lifestyle diseases, or abnormal sperm functions. This chapter aims to summarize the genetic testing methodologies used for genetic screening of infertile males, focusing on karyotype analysis, sperm FISH, and polymerase chain reaction-based testing, as well as multiplex ligation-dependent probe amplification (MLPA) for Y chromosomal evaluation. It also summarizes the cutting-edge genetic testing methodologies using oligonucleotide-array-based comparative genomic hybridization (array-CGH) and whole-genome sequencing, which allow analysis at a nucleotide-level resolution. Comparative genomic hybridization (CGH) enables the screening of an entire genome for genetic modifications.
