The application belongs to the technical field of
gene detection and molecular diagnosis, and particularly relates to a kit for detecting a pathogenic
gene of phenylketonuria and application thereof. The kit comprises a primer pair for amplifying specific exons and splicing regions of a
phenylalanine hydroxylase gene, and specific probes for detecting hot spot mutations and deletion / repetition variations of the
gene. The application can detect genetic variations related to phenylketonuria in one time, quickly and accurately by combining optimized
multiplex polymerase chain reaction with high-
throughput sequencing or gene
chip technology, and covers various known hot spot mutations and copy number variations including c.1222C>T, c.1068-11G>A, c.728G>A and c.1162G>A. The kit has high detection sensitivity and strong specificity, and is suitable for positive recall diagnosis of neonatal phenylketonuria screening,
genetic diagnosis of suspected patients, carrier screening and
prenatal diagnosis, and provides an efficient tool for precise prevention and control of phenylketonuria.