Preimplantation genetic testing-monogenic is employed to check for a selected genetic pathogenic variant (mutation) related to a known diagnosis or known predisposition within a family. Preimplantation genetic testing-monogenic doesn’t test for all single gene disorders directly and can not detect de novo pathogenic variants. This technique examines embryos using either cytogenetic or molecular techniques for (1) single-gene disorders (eg, Huntington disease, CF , fragile X syndrome), including people who are autosomal dominant and recessive or X-linked, or (2) hereditary cancer syndromes (eg, hereditary breast and ovarian cancer, Lynch syndrome). Additionally, preimplantation genetic testing-monogenic are often wont to identify human leukocyte antigen-compatible, unaffected embryos gestated with the goal of allowing ill relations to receive compatible bone marrow transplants or cord blood transfusions.
Preimplantation genetic testing-monogenic uses only a couple of cells from the first embryo, usually at the blastocyst stage, and misdiagnosis is feasible but rare with modern techniques.
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