Biotinidase Deficiency
The NEONATAL BTD Screening Fluo is an enzymatic assay designed to quantitatively measure biotinidase (BTD) activity levels in newborns, using dried blood spots, for the detection of biotinidase deficiency.
Fluorometry
Our fluorometric screening line combines immunoassays and enzymatic assays to cover the core metabolic and endocrine panel: PKU, congenital hypothyroidism, CF (IRT), CAH, galactosemia, MSUD, biotinidase and G6PD deficiency.
qPCR
Analysis Our molecular line screens for SMA, SCID and XLA by multiplex qPCR.
Run separately or as a single SCID + SMA + XLA reaction, directly from one dried blood spot. One punch, up to three actionable results.
Analysis Our molecular line screens for SMA, SCID and XLA by multiplex qPCR.
Run separately or as a single SCID + SMA + XLA reaction, directly from one dried blood spot. One punch, up to three actionable results.
Mass
spectrometry Our mass spectrometry line resolves clinically significant hemoglobin variants with MS/MS sensitivity. Sample multiplexing keeps throughput high for large-scale programmes.
spectrometry Our mass spectrometry line resolves clinically significant hemoglobin variants with MS/MS sensitivity. Sample multiplexing keeps throughput high for large-scale programmes.
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Genetic testing
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Genetic testing
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