METHOD FOR PREIMPLANTATION GENETIC TESTING OF STARGARDT DISEASE Russian patent published in 2024 - IPC C12Q1/6806 C12Q1/6876 

FIELD: biotechnology.

SUBSTANCE: invention relates to a method for diagnosing a monogenic disease Stargardt disease in conditions of preimplantation genetic testing (PGT). Test system for diagnosing pathogenic variants is developed NC_000001.10:g.94508353G>A (NM_000350.3:c.3292C>T), NC_000001.10:g.94514475C>A (NM_000350.3:c.2692G>T), NC_000001.10:g.94476951A>G (NM_000350.3:c.5461–10T>C) in ABCA4 gene for use within PGT of monogenic Stargardt disease with possibility of direct and indirect diagnosis.

EFFECT: within the framework of testing the test system, high specificity and efficiency, as well as versatility with respect to biosamples of various types have been shown: single cells, a product of whole genome amplification, total DNA recovered from different tissues; wherein the developed test system can be used not only for detecting a specific pathogenic variant, but also for any other pathogenic variant or several in the ABCA4 gene using indirect detection; using the developed test system, preimplantation genetic testing of Stargardt disease was carried out for families with a high risk of developing this disease in future children.

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