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

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

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.

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Second-Tier Testing for "Problem" Analytes

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• Introduction
• What is Newborn Screening?
• Evolution of Newborn Screening
• ACMG* Uniform Panel
• MS/MS Impact on Newborn Screening
• Newborn Screening Performance in the USA (MS/MS)
• Costs of False-Positive NBS Results
• Newborn Screening in Minnesota
• MN Newborn Screening Program
• Costs of False-Positive NBS Results
• What is Second-Tier Testing?
• Second-Tier Testing is Performed for the Following "Problem" Analytes
• Why Second-Tier Testing?
• Costs of False-Positive NBS Results
• Impact of Second-Tier Testing on Performance of Newborn Screening by MS/MS at Mayo Clinic
• Questions?