HIGH-THROUGHPUT SCREENING OF METABOLIC DISORDERS USING A LASER DESORPTION ION SOURCE COUPLED TO A MASS ANALYZER

摘要

Methods and kits for high throughput screening and analysis of metabolic disorders using a laser desorption ion source coupled to a mass analyzer (for example, MALDI) are provided. The metabolic disorders can be amino acid, organic acid or fatty acid oxidation disorders. A panel of disorders can be analyzed at high speeds. The methods and kits are particularly useful for newborn screening (NBS) of metabolic disorders.