METHOD OF DIAGNOSTICS OF GLYCOGENIC ILLNESS IXa TYPE IN CHILDREN USING 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 coding, adjacent intron 3' and 5' untranslated regions of the genes PGM1, AGL, GBE1, GYG1, PGAM2, LDHA, PYGM, SLC37A4, GYS2, LDHB, PFKM, PYGL, ALDOA, PHKG2, PHKB, ENO3, G6PC, GYS1, PHKA2, PHKA1, LAMP2 using SeqCap EZ targeted targeting technology on the 454 platform. In case of detection of pathogenic mutation c.394C> T in exon 04 of PHKA2 gene in the homozygous state of TT, a conclusion is made about the presence of glycogen disease IXa type in children.

EFFECT: invention allows us to conclude that the patient has a glycogen disease IXa type, which in turn makes it possible to adjust the therapy tactics and reduce the consequences of possible disability and significantly improve the quality of life of such patients.

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