METHOD FOR PREIMPLANTATION GENETIC TESTING OF TYPE 1 HEREDITARY MULTIPLE OSTEOCHONDROMAS Russian patent published in 2023 - IPC C12Q1/68 C12Q1/6806 

FIELD: medicine.

SUBSTANCE: invention relates to a method for diagnosing type 1 hereditary multiple osteochondromas monogenic disease under conditions of preimplantation genetic testing (PGT). A test system has been developed for diagnosing the pathogenic variant NC_000008.10:g.118849441C>G (NM_000127.2:c.963-1G>C) in the EXT1 gene for use in the PGT of type 1 hereditary multiple osteochondromas monogenic disease with the possibility of direct and indirect diagnostics. The method has high specificity and efficiency, as well as versatility in relation to biosamples of various types: single cells, the product of whole genome amplification, total DNA isolated from different tissues. Using the developed test system, preimplantation genetic testing of the disease hereditary multiple osteochondromas type 1 was carried out for families with a high risk of developing this disease in future children.

EFFECT: method can be used not only for the detection of a specific pathogenic variant, but also for any other pathogenic variant or several in the ЕХТ1 gene using indirect detection.

1cl, 1 dwg, 2 tbl, 1 ex