PREIMPLANTATION GENETIC TESTING METHOD FOR FANCONI ANEMIA Russian patent published in 2023 - IPC C12Q1/68 

FIELD: molecular biology.

SUBSTANCE: method for diagnosing a monogenic disease, Falconi’s anemia, under preimplantation genetic testing (PGT). A test system has been developed for the diagnosis of pathogenic variants NC_000016.9:89869728A>T (NM_000135.2:c.731T>A, p.Leu244Ter) and deletion of exons 1-3 in the FANCA gene for the use of the monogenic disease, Falconi’s anemia, as part of PGT with the possibility of direct and indirect diagnosis. As part of the development of the test system, high specificity and efficiency, as well as versatility in relation to bio-samples of various types, were shown: single cells, a product of whole genome amplification, total DNA isolated from various tissues.

EFFECT: creation of a test system for diagnosing pathogenic variants in the FANCA gene with a double detection system – direct and indirect, and deletion of exons 2-3 in the FANCA gene with indirect detection of a variant.

1 cl, 2 tab, 1 ex