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In contrast to the comparatively large (by the standards of the genome) changes in the karyotype, affecting entire chromosomes or part of them, there are a huge number of changes in genomic DNA or at the molecular level, called mutations.
This kind of mutations can be varied, but small deletions, duplications or substitutions of nucleotides (changes in a certain gene) are considered more common, as a result of which monogenic diseases such as phenylketonuria, spinal muscular atrophy, hemophilia, etc. can develop.
Mutations can occur spontaneously (de novo) or be inherited from generation to generation. Some diseases cause the so-called dominant mutations, which formed spontaneously during spermatogenesis or ovogenesis, or were passed on to the child by inheritance from a sick parent.
Another group includes recessive diseases, which most often develop in children if both parents are healthy, but are carriers of certain recessive mutations. In cases if pathologies are known, a molecular examination is possible as a part of preimplantation genetic diagnosis (PGT-M/PGD).
Genetic centre iVF Riga provides the following molecular genetic examinations:
- genetic tests for the complex examination of female/male infertility (Female/Male Fertility Tests);
- non-invasive determination of fetal Rhesus factor in pregnant women;
- testing for the Fragile X chromosome syndrome;
- testing for determination of AZF region microdeletions of Y-chromosome;
- HLA typing;
- KIR typing;
- genetic testing of missed abortion material;
- genetic testing of hereditary cancer;
- testing for inherited recessive diseases.