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, selective 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.