Carrier Screening

In the DNA molecule, which consists of 3.2 billion nucleotides that constitute our hereditary code, there are errors in a few nucleotides in all individuals. Since these errors are in different genes, they usually do not pose any health risk. In the absence of consanguineous marriage, the chance of rare genetic diseases is low, as children receive these wrong nucleotides from different DNA regions (genes) from their parents. In the presence of consanguineous marriage, the risk of sick children increases as the probability of the same mistake being in the same region in the mother and father is high. For this purpose, it is aimed to examine the changes in the 20,000 genes of DNA encoding protein, called whole-exome analysis, in couples, and to prevent the birth of a sick child by prenatal diagnosis or preimplantation genetic diagnosis in the presence of possible mutations.

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