METHOD OF PREIMPLANTATION GENETIC TESTING OF METACHROMATIC LEUKODYSTROPHY Russian patent published in 2021 - IPC C12Q1/68 G01N33/48 C12N15/00 

FIELD: biotechnology.

SUBSTANCE: invention refers to biotechnology, namely to a preimplantation method for diagnosing monogenic disease metachromatic leukodystrophy in preimplantation genetic testing (PGT) conditions. Test system for diagnosing pathogenic variants NC_000022.10:g.51065593C>T (NM_000487.5:c.465+1G>A, rs80338815) and NC_000022.10:g.51064630C>T (NM_000487.5:c.931G>A, p.r311X) in ARSA gene for use within PGT of monogenic disease metachromatic leukodystrophy with possibility of direct and indirect diagnostics. Within the testing system, high specificity and effectiveness, as well as versatility with respect to bio samples of different types: single cells, a product of full-genomic amplification, total DNA recovered from different tissues. Developed test system can be used not only for detecting a specific pathogenic variant, but for any other pathogenic variant or several in the ARSA gene by indirect detection.

EFFECT: using the developed test system, preimplantation genetic testing of metachromatic leukodystrophy for families with a high risk of developing the disease in future children.

1 cl, 1 ex