FIELD: medicine.
SUBSTANCE: what is offered is a test system presented by a oligonucleotide kit enabling detecting point mutations in FAH and SERPINA1 genes which induce type 1 tyrosinemia and alpha-1-antitrypsin deficiency respectively. What us described is a method for detection of said point mutations involving two-round multiplex PCR with using the respective kit of specific primers and hybridisation of the prepared PCR products with a biochip containing the test system under the invention.
EFFECT: method enables the short-term accurate genetic analysis.
3 cl, 13 tbl, 19 dwg, 6 ex
