Simultaneous newborn screening for sickle cell disease, biotinidase
deficiency and hereditary tyrosinemia type 1 with an optimized tandem
mass spectrometry protocol
- Stephan Lobitz,
- Claudia Frömmel,
- Annemarie Brose,
- Oliver Blankenstein,
- Charles Turner,
- Neil Dalton,
- Yvonne Daniel,
- Jeannette Klein
Charles Turner
SpOtOn Clinical Diagnostics, Evelina London Children’s Hospital
Author ProfileNeil Dalton
SpOtOn Clinical Diagnostics, Evelina London Children’s Hospital
Author ProfileAbstract
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.