Phenylalanine hydroxylase gene mutation detection kit (PCR-reverse dot hybridization)

     

  Phenylketonuria (PKU) is a common amino acid metabolic disease. It is due to an enzyme defect in the phenylalanine (PA) metabolic pathway, which prevents phenylalanine from being converted into tyrosine, resulting in phenylalanine and Its keto acids accumulate and are excreted in large amounts from urine. The disease is relatively common in inherited amino acid metabolism defects, and its inheritance is autosomal recessive. The clinical manifestations are uneven, and the main clinical features are mental retardation, neuropsychiatric symptoms, eczema, skin scratches and depigmentation, rat smell, and abnormal EEG. If early diagnosis and early treatment can be obtained, the above clinical manifestations can be prevented, and mental retardation and abnormal EEG can also be recovered.

  This product uses PCR amplification and DNA reverse dot hybridization (PCR-RDB) technology to detect 9 common mutation types in Chinese population (R111X, R176X, EX6-96A> G, R241C, R243Q, R252Q, Y356X, V399V , R413P), suitable for newborn PKU screening and pre-pregnancy health check.

1. Growth and retardation

In addition to the growth and development alsteria of the body, the main manifestation satage is mental retardation. Performance in iq lower than the same age normal children, after 4 to 9 months of life can appear. Heavy-duty people with IQs below 50are particularly pronounced for speech development disorders, which suggest brain development disorders.

2、

Neuropsychiatric performance

Due to brain atrophy and cerebellum malformation, recurrent seizures, but with age and reduce. The muscle tone increases and the reflexes advance. There is often excitement, hyperactivity, and abnormal behavior.

3、

Skin hair performance

The skin is often dry and prone to eczema and skin scratches. Because tyrosine enzyme is suppressed, so that melanin synthesis is reduced, so the child's hair is light and brown.

4、

Others

lack of phenylalanine hydroxyase, phenylalanine from another pathway to produce benzene lactic acid and benzene ethyl brewing increase, so sweat and urine when discharged with a moldy odor (or rat odor).

1. Newborn screening, can achieve early detection, early detection, early prevention, early intervention, improve the intelligence of children;
2. Distinguish between the important genetic characteristics of pure hejukuand hemosome and heterogeneous children, which is helpful to clinical treatment and family genetic consultation;
3. Testing newlyweds to provide genetic prediction for the genetic status offuture generations, providing guidance for eugenics and eugenics,  preventing and reducing the emergence of low-mentally ill people;
4. Prenatal diagnostic screening, providing accurate programs for prevention of mental injury for the sick fetus；
5. The prevention of intellectual injury for sick fetuses.

Comprehensive:Simultaneous detection of 9 common mutations in the Chinese population with wide mutation coverage
Accurate:verified by more than 20,000 clinical epidemiological samples, and the coincidence rate with sequencing is 100%; all sites are set with normal controls for heterozygous / homozygous discrimination to reduce missed detections
Convenient:interpret the result directly with the naked eye, accurate and easy to judge
Genetic testing:reliable results for life

Pre-marital inspection and risk assessment

Pre-pregnancy and prenatal diagnosis screening

High-risk groups, newborn screening

Health carrier screening

Test specimen: anticoagulant whole blood or genomic DNA

Technical principle:PCR - reverse point hybridization

Packing size: 25 tests / kit

Class: In vitro diagnostic reagents

Suitable instruments: common gene amplification instrument, molecular hybridizer