Reproductive Health
Inborn errors of metabolism (IEMs) are a group of diseases that result from a genetic defect in an enzyme, receptor, transport protein or membrane pump which is essential to maintain the normal metabolism of the body. They have a wide variety, high overall incidence, complex and varied clinical manifestations, and the lack of specificity. If not timely diagnosis and treatment, often disabling, even life-threatening.
Common clinical manifestations of IEMs
Product introduction
Newborn screening is to detect the levels of amino acids, free carnitine and acyl carnitine in dried blood spots from a heel stick by liquid chromatography-tandem mass spectrometry (LC-MSMS). It's sensitive, specific, select ive and fast. We can detect 48 common IEMs including disorders of amino acid, disorders of organic acid and disorders of fatty acid in one test by LC-MSMS, with the efficiency of newborn screening greatly improved.
Screening panel
Specimen collection
Time: 72 hours after birth, full breastfeeding at least 6 times;
Location: heel stick;
Blood spots: diameter 8mm, 3 circular uniform blood spots;
Seal after natural drying (3-4 hours), store at 2-8℃;
Deliver blood spots timely, less than 5 working days.
Detection process
Suitable crowd
1. Newborn;
2. Suspected newborn / infants / children.
- Noninvasive prenatal gene detection
- Genetic testing for hereditary deafness
- Neonatal Genetic Metabolic Disease
- Chromosomal Abnormality
- Metabolic Capacity Of Folic Acid
- Detection of microdeletion of chromosome microdeletion
- Chromosome microarray (CMA)
- Detection of children's safety in drug use
Address: No. 1109, Hsing three road, Ji'nan high tech Zone, Shandong
Phone: 400-966-22200
Web site: www.yinfenggene.com
Mailbox::yinfengyixuejianyan@yfyxjy.com