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Error analysis in newborn screening: can quotients support the absolute values?

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Abstract

Newborn screening is performed using modern tandem mass spectrometry, which can simultaneously detect a variety of analytes, including several amino acids and fatty acids. Tandem mass spectrometry measures the diagnostic parameters as absolute concentrations and produces fragments which are used as markers of specific substances. Several prominent quotients can also be derived, which are quotients of two absolute measured concentrations. In this study, we determined the precision of both the absolute concentrations and the derived quotients. First, the measurement error of the absolute concentrations and the measurement error of the ratios were practically determined. Then, the Gaussian theory of error calculation was used. Finally, these errors were compared with one another. The practical analytical accuracies of the quotients were significantly higher (e.g., coefficient of variation (CV) = 5.1% for the phenylalanine to tyrosine (Phe/Tyr) quotient and CV = 5.6% for the Fisher quotient) than the accuracies of the absolute measured concentrations (mean CVs = 12%). According to our results, the ratios are analytically correct and, from an analytical point of view, can support the absolute values in finding the correct diagnosis.

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Abbreviations

ALA:

Alanine

ARG:

Arginine

ASA:

Argininosuccinic acid

C0:

Free carnitine

C10:

Decanoylcarnitine

C10:1:

Decenoylcarnitine

C12:

Dodecanoylcarnitine

C14:

Myristoylcarnitine

C14:1:

Myristoleylcarnitine (tetradecanoyl-)

C14:2:

Tetradecadienoylcarnitine

C16:

Palmitoylcarnitine (hexadecanoyl-)

C16OH:

3-Hydroxy-palmitoylcarnitine

C18:

Stearoylcarnitine (octadecanoyl-)

C18:1:

Octadecenoylcarnitine

C18:1OH:

3-Hydroxy-octadecenoylcarnitine

C18OH:

3-Hydroxy-stearoylcarnitine

C2:

Acetylcarnitine

C3:

Propionylcarnitine

C3DC:

Malonylcarnitine

C4:

Butanoylcarnitine

C4DC:

Methylmalonylcarnitine

C5:

Isovalerylcarnitine

C5:1:

Tiglylcarnitine

C5DC:

Glutarylcarnitine

C5OH:

Hydroxyisovalerylcarnitine

C6:

Hexanoylcarnitine

C8:

Octanoylcarnitine

CIT:

Citrulline

GLY:

Glycine

LEU:

Leucine/Isoleucine

MET:

Methionine

ORN:

Ornithine

PHE:

Phenylalanine

TYR:

Tyrosine

VAL:

Valine

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Authors and Affiliations

  1. Institute of Laboratory Medicine and Pathobiochemistry, Molecular Diagnostics, Hospital of the Universities of Giessen and Marburg (UKGM), Justus Liebig University Giessen, Feulgenstr. 12, 35392, Giessen, Germany

    Borros Arneth & Martin Hintz

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  1. Borros Arneth
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  2. Martin Hintz
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Correspondence to Borros Arneth.

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Arneth, B., Hintz, M. Error analysis in newborn screening: can quotients support the absolute values?. Anal Bioanal Chem 409, 2247–2253 (2017). https://doi.org/10.1007/s00216-017-0179-z

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  • DOI: https://doi.org/10.1007/s00216-017-0179-z

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