Phenylketonuria (PKU) is a common amδ∑∏→ino acid metabolic disease. It is ↓ due to an enzyme defect in$•♦ the phenylalanine (PA) metπΩ§abolic pathway, which prevents αphenylalanine from be™₹ ₩ing converted into tyrosine, resul &ting in phenylalanine and Its ke☆←→to acids accumulate and aγβre excreted in large amounts from urine. The dε≥£×isease is relatively common in ♦↔φ≈inherited amino acid metabolism defΩ∞Ωects, and its inheritance is au±σγΩtosomal recessive. The ∑φclinical manifestations are un•↔®↑even, and the main clinical features ♦ are mental retardation, neuropsychiatric sσα≠×ymptoms, eczema, skin scratche☆♠"s and depigmentation,σ¥✘ rat smell, and abnormal↓£π→ EEG. If early diagnoπ♦βΩsis and early treatment can be obtained, the ab✔ove clinical manifestations can be preδ←™vented, and mental retardatδ↔↓ion and abnormal EEG can also be recovered.
This product u₽Ωδ€ses PCR amplification and DNA reverse dot™→ hybridization (PCR-RDB) technology to detect $δδ↕9 common mutation types in Chines↓&εe population (R111X, R176™ ∏↕X, EX6-96A> G, R241C, R243Q, R252Q, Y35×★α¶6X, V399V , R413P), suitable for newborn ₩§♥PKU screening and pre-pregnancy hea♣δlth check.
1. Growth and retardation
In addition to the growth and development al∑♠®steria of the body, ™©★the main manifestation satag¶↓♠e is mental retardation. Perβ•λ←formance in iq lower than the same age normal chi$↓ldren, after 4 to 9 󱧣;months of life can appear. Heavy-dφ₹uty people with IQs below π↕≤;50are particularly pronounced for sp£®≈σeech development disorders, which suggest brai↓'n development disorders.
2、Neuropsychiatric performance
Due to brain atrophy and cerebellum malform✘↑×ation, recurrent seizures, but with age and r↔ε★educe. The muscle π∞tone increases and the reflexes advance. There i☆≠s often excitement, hyperac®tivity, and abnormal behaφ∞•vior.
3、Skin hair performance
The skin is often dry and prone to ecz♥≈ema and skin scratche¥σ↕s. Because tyrosine £πenzyme is suppressed, α★&®so that melanin synthesis is reduced, s∏ε®πo the child's hair is light and brown.®$
4、Others
1. Newborn screening™↓π, can achieve early detection, early d×"®etection, early prevention, e™£arly intervention, improve the intell×↑✔igence of children;
2. Distinguish between the import ₽€ant genetic characteristics of pure hejukuφ₽and hemosome and heteroge∑≠★neous children, which is helpful to c♠ ↔πlinical treatment and family genetic consu☆₹ltation;
3. Testing newlyweds to provide geα§φ♣netic prediction for the genetic sta↔←¥☆tus offuture generations, providing guidance ✘₽for eugenics and eugenics, ✘∏;preventing and reducing the emergenc ε↔÷e of low-mentally ill "→ ←people;
4. Prenatal diagnostic screen®≤↕∏ing, providing accurate prβσ ograms for prevention of mental injury for t✔λhe sick fetus；
5. The prevention of int<πellectual injury for sick fetu←♠≠£ses.
Pre-marital inspection and•" risk assessment
Pre-pregnancy and prφπenatal diagnosis screening
High-risk groups, newborn screening
Health carrier screening
Test specimen: anticoagulant wh™₽ ole blood or genomic •≥€γDNA
Technical principle:PC§∞∞ R - reverse poi∑↓nt hybridization
Packing size: 25 tests / kit
Class: In vitro diagnosti ★c reagents
Suitable instruments: co€☆♠±mmon gene amplification in♦☆strument, molecular hybr<÷idizer
Date:2020-03-26
Date:2020-03-30
Date:2020-03-17
Date:2020-03-11
Date:2020-03-03
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