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Supplemental Newborn Screening by MS/MS-Based Second-Tier Testing

Second-Tier Testing is Performed for the Following "Problem" Analytes

Slide 12

July 2008

The second-tier testing is performed for the following problem analytes. Again, these analytes have concentrations in the normal population that overlap with those in affected patients. There is 17-Hydroxy progesterone, the marker for congenital adrenal hyperplasia, that is particularly problematic among premature infants. There is methionine, which is a non-specific marker for homocystinuria and remethylation defects. There is C3 acylcarnitine, a propionylcarnitine, which is a nonspecific marker for propionic scidemia and methymalonic acidemias.  And there are branch-chain amino acids, such as leucine, valine and isoleucine, which are nonspecific markers for maple syrup urine disease and mostly elevated in patients that receive total parental nutrition.

Second-Tier Testing for "Problem" Analytes


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