Infertility
Infertility and problems of impaired fecundity have been a concern through ages and is also a significant clinical problem today, which affects 8–12% of couples worldwide. (Kumar N., 2015). However, genetic abnormalities in the genes that control numerous biological processes implicated in gametogenesis, maintenance of sperm/ ovarian reserve, hormonal signaling, and anatomical and functional development of reproductive organs are associated with infertility.
Genetic factors contribute upto 15%–30% cases of male infertility (Shamshi MB, 2011). These include:
- Chromosomal abnormalities (numerical and structural chromosomal aberrations)
- Monogenic disorders
- Mitochondrial DNA (mtDNA) mutations
- Y chromosome deletions
- Multifactorial disorders
- Imprinting disorders
- Endocrine disorders of genetic origin
Female factors account for at least 35% of all infertility cases and comprise a wide range of causes including:
- Chromosome abnormalities
- Submicroscopic chromosome deletion and duplications
- DNA sequence variations in the genes that control numerous biological processes implicated in oogenesis, maintenance of ovarian reserve, hormonal signaling etc.
- Anatomical and functional development of female reproductive organs.
Tests Available As:
- Y-Chromosomal microdeletion
- Sperm DNA Fragmentation test
- ORION (Whole Exome Sequencing)