METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY Russian patent published in 2022 - IPC G01N33/50 C12Q1/6827 C12Q1/6876 C12Q1/6883 

FIELD: medicine.

SUBSTANCE: proposed is a method for pre-implantation genetic testing of familial hypertrophic cardiomyopathy, involving the detection of inheritance of the pathogenic variant NC_000011.9:g.19209773C>A, NM_003476.5:c.191G>T, p.Arg64Leu in the CSRP3 gene. The method includes a dual detection system: direct and indirect. Direct detection is performed using amplification primers. Indirect detection is performed using primers for analysing the inheritance of STR-type molecular genetic markers linked to the pathogenic variant, selected from SEQ ID N 1-24.

EFFECT: invention ensures the creation of a test system for diagnosing pathogenic variants in the CSRP3 gene with a dual detection system, direct and indirect.

1 cl, 1 ex