High-throughput screening of metabolic disorders using a...

Details High-throughput screening of metabolic disorders using a... High-throughput screening of metabolic disorders using a...

H - Electricity

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H01J 49/10 (2006.01) C40B 30/10 (2006.01) G01N 27/00 (2006.01) G01N 30/02 (2006.01) G01N 30/72 (2006.01) H01J 49/26 (2006.01)

Patent

CA 2712520

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.

L'invention porte sur des procédés et des kits pour un dépistage et une analyse à haut débit de perturbations du métabolisme à l'aide d'une source d'ions à désorption laser couplée à un analyseur de masse (par exemple, MALDI). Les perturbations du métabolisme peuvent être des perturbations d'oxydation des acides aminés, des acides organiques ou des acides gras. Un éventail de perturbations peut être analysé à grande vitesse. Les procédés et les kits sont particulièrement utiles pour un dépistage néonatal (NBS) de perturbations du métabolisme.

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