METHOD FOR PREIMPLANTATION GENETIC TESTING OF MARFAN SYNDROME Russian patent published in 2025 - IPC C12Q1/68 G01N33/48 

FIELD: biotechnology.

SUBSTANCE: invention relates to biotechnology, in particular to a method for pre-payment genetic testing of a pathogenic variant NC_000015.9:g.48725062C>G (NM_000138.5:c.6739+1G>C) in the FBN1 gene, associated with Marfan syndrome. Said method involves detecting the inheritance of said pathogenic variant and includes a dual detection system – direct and indirect, where direct detection is carried out using primers for amplification, characterized by sequences SEQ ID NO: 36-41, and indirect detection is carried out using primers for analysis of inheritance of molecular genetic markers of STR type, linked to a pathogenic variant, selected from SEQ ID NO: 1-35.

EFFECT: present invention provides a test system for diagnosing a pathogenic variant NC_000015.9:g_48725062C>G (NM_000138.5:c_6739+1G>C) in the FBN1 gene with dual detection system – direct and indirect.

1 cl, 2 tbl, 1 ex