Phenylalanine Hydroxylase deficiency is a recessive hereditaryphenylalanine metabolism disorder. The mutated nonfunctionalphenylalanine hydroxylase caused the accumulation of phenyl-ketone in body whi
Phenylalanine Hydroxylase deficiency is a recessive hereditary
phenylalanine metabolism disorder. The mutated nonfunctional
phenylalanine hydroxylase caused the accumulation of phenyl-
ketone in body which can be detected in Urine (Phenylketonuria,
PKU), Incidence of PKU varies geographically from 1/2600 to 1/
120000. Untreated PKU result in the abnormally high blood level
of phenylalanine which lead to brain damage. Common syndrome
of PKU include severe intellectual disability, brain function
abnormalities and behavioral problems.
Detection of 22 mutations related to PKU
US patented Flow-through Hybridization Technology
Compatible for use with whole blood, cord blood, dried blood spot and amniotic fluid samples
Include amplification control (IC) and hybridization control (Biotin) for monitoring of the entire detection process
Rapid and accurate identification of mutations of PKU in one single test
Easy to operate with 1 hour hands-on time, result available within 3 hours
Simple and direct result interpretation
Effective and cost-efficient
Able to differentiaite homozygous/ heterozygous carrier