Testing is currently available to test patients for the presence or absence of gene mutations that can be associated with genetic disorders. Genetic carrier testing specifically tests for autosomal recessive and X-linked gene mutations, which some people may have and be unaware of due to the lack of clinical manifestation in carriers who do not have disease. Some examples of autosomal recessive genetic conditions are cystic fibrosis, Tay-Sachs disease, and sickle cell anemia. Carriers can potentially pass a gene mutation to their offspring; therefore, the ability to test for such gene mutations provides information prior to conception. Due to advances in molecular genetic technology, testing is more accurate than ever and hundreds of genetic mutations can be tested for with one serum or saliva sample. Since the optimal time for such testing is prior to conception so that all reproductive options can be considered, genetic carrier testing is offered to patients who are interested in conceiving. If there is risk of disease transmission to a child, then reproductive options include preimplantation genetic testing for monogenic disorders (PGT-M) which requires in vitro fertilization (IVF) or donor gametes, assuming the donor has been screened and is negative for the given genetic condition(s). It is, of course, patient choice as to whether or not such testing is performed.
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