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Labsystems Diagnostics introduced world's first fluorometric microplate based assay for screening Phenyl Alanine in newborns to detect Phenylketonuria (PKU) and now on tandem MS along with more than 50 disorders. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) increased the screening possibilities by monitoring levels of amino acids and acylacarnitines. These tests can also be used in screening positive samples as a second tier confirmation test to differentiate between true and false positive samples. LC-MS/MS can detect several disorders with a single injection, which is important in high throughput labs.
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders that impair cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with over 95% of all cases caused by 21-hydroxylase deficiency. CAH owing to 21-hydroxylase deficiency is the most common cause of genital ambiguity in the newborn and is present in about 1 in 15,000 live births worldwide
NeoMass AAAC is used with Tandem Mass Spectrometry to detect concentrations of amino acid, free carnitine, acylcarnitines, succinylacetone and argininosuccinic acid.
Expanded newborn screening panel for quantitative determination of 15 Amino acids, free Carnitines, 12 Acylcarnitines, Argininosuccinic acid (ASA) and Succinylacetone (SUAC) under the same extraction method and single injection/single run step without using any toxic compounds, on Tandem MS