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Disorder List

First Step will screen for the following Inborn Errors of Metabolism (also known as Metabolic Disorders) by Tandem Mass Spectrometry and Biochemical Analysis. Newborns are screened from a dried blood spot, ideally collected within 24 to 72 hours of birth.

Disorders Detected by Tandem Mass Spectrometry

Acylcarnitine Profile - Fatty Acid Oxidation Disorders
Acylcarnitine Profile - Organic Acid Disorders
Amino Acid Profile - Amino Acid Disorders
Other Disorders