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Simultaneous newborn screening for sickle cell disease, biotinidase deficiency and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol
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  • Stephan Lobitz,
  • Claudia Frömmel,
  • Annemarie Brose,
  • Oliver Blankenstein,
  • Charles Turner,
  • Neil Dalton,
  • Yvonne Daniel,
  • Jeannette Klein
Stephan Lobitz
Gemeinschaftsklinikum Mittelrhein gGmbH

Corresponding Author:[email protected]

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Claudia Frömmel
Alexianer St. Hedwig Krankenhaus
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Annemarie Brose
Charité Universitätsmedizin Berlin
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Oliver Blankenstein
Charité Universitätsmedizin Berlin
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Charles Turner
SpOtOn Clinical Diagnostics, Evelina London Children’s Hospital
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Neil Dalton
SpOtOn Clinical Diagnostics, Evelina London Children’s Hospital
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Yvonne Daniel
Viapath
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Jeannette Klein
Charité Universitätsmedizin Berlin
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Abstract

Newborn screening is an important public health measure of secondary prevention. With the increasing number of target conditions, there is a growing demand to optimize laboratory processes to save patient material and to work cost-effectively. Here, we report an adaption of the commercially available SpotOn Clinical Diagnostics tandem mass spectrometry test kit to detect hemoglobin fragments as well as substrate-product pairs of biotinidase and porphobilinogen synthase at once. The presence of specific peptides and the enzyme activities allows to infer to disease states, i.e., sickle cell disease, biotinidase deficiency and hereditary tyrosinemia type 1.