Neonatal genetic and metabolic disease screening refers to the population census, early detection and early treatment of some serious congenital and genetic diseases in the neonatal period, so as to avoid irreversible physical and intellectual development disorders. This kind of disease often lacks specific symptoms in the neonatal period and even in the infant period. Once the symptoms appear, irreversible damage has been formed, and the good opportunity for treatment has been lost. However, biochemical metabolism and other changes have occurred in the blood during the neonatal period, so early diagnosis can be made in the neonatal period.
The screening of neonatal genetic and metabolic diseases is an important part of modern preventive medicine, which has profound and positive significance for eugenics and improving the quality of the birth population, and is also one of the important measures to fundamentally reduce the high incidence of birth defects.
1. Characteristics of screening reagents
(1) One blood tablet, one experiment, multiple metabolites, multiple diseases.
(2) Detection of 45 substances (carnitine and amino acids)
(3) It can screen more than 40 kinds of genetic and metabolic diseases.
(4) It is the only tandem mass spectrometry kit certified by China and ISO13485 and 2003.
(5) Advanced extraction technology, simple operation, ensure the health of operators.
2. Platform advantages
(1) Accurate - the first national CFDA certified, specially developed and optimized simple reporting software, with accurate and reliable results.
(2) High efficiency: detect more than 30 kinds of genetic and metabolic diseases at one time.
(3) Large scale - large scale test samples, statistical analysis of massive data.
2.1.3 significance of detection
(1) More than 40 kinds of genetic and metabolic diseases were detected by tandem mass spectrometry, which greatly increased the types of conventional screening diseases, further reduced birth defects and saved more children.
(2) large scale and high throughput tandem mass spectrometry (MCM) can cover the whole area, establish a database of genetic metabolic diseases incidence rate, gender and disease database, analyze epidemiology in this area, focus on monitoring high-risk groups, and guide intervention and treatment.
1. Screening diseases
Phenylketonuria (PKU), hypothyroidism (CH), congenital adrenal hyperplasia (CAH), glucose-6-phosphate dehydrogenase deficiency (G6PD)
2. Reagent characteristics
(1) Higher sensitivity and specificity;
(2) Pass the verification of CDC;
(3) The product background noise is very low;
(4) The manual details the operation process
3. Platform advantages
(1) Fully automatic system with robot arm to ensure accurate results
(2) High throughput can be used on 12 boards at the same time, which can be used in laboratories with large sample size
(3) No need for disposable sample adding head and reagent tank, saving cost
(4) Manual, automatic, flexible switching, can be upgraded to fully automatic