MassChrom® Amino Acids and Acylcarnitines from Dried Blood - LC-MS/MS

Clinical relevance

Newborn screening aims to detect congenital metabolic disorders early on before they can cause harm to the organism. Included in these diseases are defects of amino acid metabolism such as phenylketonuria (PKU) and maple syrup urine disease (MSUD), defects of fatty acid metabolism and organic acidurias.

Mass spectrometry is the method of choice for diagnostic testing: it enables to check for a broad range of metabolic defects in a single run. An HPLC column is not required due to the high selectivity of tandem mass spectrometry.

Product advantages

• Screening for many metabolic disorders in a single run such as PKU (Phenylketonuria) and MSUD (Maple Syrup Urine Disease)
• Each analyte safeguarded by its own internal standard

Assay characteristics

This Chromsystems assay allows the fast determination of amino acids and acylcarnitines from dried blood spot samples as part of the newborn screening for amino acid and fatty acid metabolic disorders using tandem mass spectrometry. Sample preparation is based on effective extraction of the analytes from the blood spot with subsequent derivatisation.

Detailed performance evaluation data for this assay can be found in Appendix III of the instruction manual.

Here's an overview of all our newborn screening assays.