FIELD: medicine.
SUBSTANCE: invention relates to molecular genetic methods for diagnosing hereditary diseases, specifically to methods for diagnosing a number of hereditary diseases based on skeletal pathology. The invention uses a library of 166 genes of "Skeletal Dysplasia" panel. The arsenal has been expanded and the effectiveness of such tools as gene libraries, which are intended for molecular genetic verification of the diagnosis for medical genetic counselling, determining the prognosis of the disease and planning preventive measures in burdened families, including prenatal DNA diagnostics, has been expanded.
EFFECT: solving the problem of obtaining a library of genes for the diagnosis of hereditary diseases with skeletal pathology, which reduces the time for analysis and simplifies the diagnosis, as well as improving the accuracy of the diagnosis of hereditary diseases with skeletal pathology.
9 cl, 3 tbl, 30 ex
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