METHOD OF DIAGNOSTICS OF CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPE IN CHILDREN WITH THE USE OF THE TECHNOLOGY OF SEQUENCING THE NEW GENERATION Russian patent published in 2017 - IPC G01N33/50 C12Q1/68 

FIELD: medicine.

SUBSTANCE: molecular genetic analysis of the encoding, adjacent intron, 3' and 5' untranslated regions of the genes NPHS1, NPHS2, PLCE1, TRPC6, ACTN4, WT1, COL4A5, CD2AP, COL4A3, COL4A4 using SeqCap EZ targeted targeting technology on the 454 platform. In case of detection of mutations c.3478C>T, the NPHS1 and c.1120A>G genes of the CD2AP gene in the heterozygous state make a conclusion about the presence of a congenital nephrotic syndrome of the Finnish type.

EFFECT: invention allows us to conclude that there is a genetically determined nephrotic syndrome, which in turn makes it possible to adjust the tactics of patient therapy from the first days of life, to reduce the consequences of possible disability and to improve the patient's quality of life.

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