Phenylalanine Hydroxylase deficiency is a recessive hereditaryphenylalanine 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.
Product Features
1.Detection of 22 mutations related to PKU
2.US patented Flow-through Hybridization Technology
3.Compatible for use with whole blood, cord blood, dried blood spot and amniotic fluid samples
4.Include amplification control (IC) and hybridization control (Biotin) for monitoring of the entire detection process
Advantage
1.Rapid and accurate identification of mutations related to G6PD deficiency in one single test
2.Easy to operate with 1 hour hands-on time, result available within 3 hours
3.Simple and direct result interpretation
4.Effective and cost-efficient
5.Able to differentiate homozygous/ heterozygous carrier