SEEKER LSD Reagent Kit
Quantitative screening of four lysosomal storage disorders - MPS I, Pompe,
Gaucher and Fabry - from a single dried blood spot.
The SEEKER LSD Reagent Kit quantitatively measures the activity of four lysosomal enzymes - IDUA, GAA, GBA and GLA - from a single newborn dried blood spot, as an aid in screening for Mucopolysaccharidosis type I (MPS I), Pompe, Gaucher and Fabry diseases. Reduced enzyme activity may indicate the corresponding lysosomal storage disorder.
All four assays run in one workflow on the SEEKER digital-microfluidic platform.
For in vitro diagnostic use; results are not diagnostic and require confirmatory testing.
Regulatory Status: CE-IVDR / FDA approved
Format: 1,440 specimens
Enzymes: α-L-iduronidase (IDUA), α-D-glucosidase (GAA), β-glucocerebrosidase (GBA), α-D-galactosidase A (GLA)
Method: digital-microfluidic fluorometry (4-MU endpoint enzyme assay)
Sample: DBS (903®/226 paper) - 3.2 mm punch
Storage: −80 to −70 °C (reagents, calibrators, controls) / 15–25 °C (extraction buffer, filler fluid, cartridges)
Automation: Manual
Turn around time: < 3h
General information
Advantages
Compatible instruments & Related kits
Each enzyme hydrolyses a 4-methylumbelliferyl substrate at its optimal acidic pH, releasing the fluorophore 4-methylumbelliferone (4-MU).
On the SEEKER cartridge, sub-microlitre droplets of dried-blood-spot extract and enzyme-specific reagent are transported over an electrode array by digital microfluidics; mixing, incubation, reaction stop (high-pH buffer) and endpoint fluorescence reading are all performed on-cartridge. The 4-MU signal is converted to a 4-MU concentration against a calibration curve and reported as enzyme activity in micromoles of product per litre of blood per hour. Spot Logic software calculates activities and flags results against laboratory-defined cutoffs.
Test principle
Lysosomal storage disorders are inherited conditions in which a deficient enzyme allows toxic substrates to accumulate, causing progressive, often irreversible damage to multiple organs. MPS I (α-L-iduronidase deficiency) leads to accumulation of glycosaminoglycans; Pompe disease (acid α-glucosidase deficiency) to glycogen build-up affecting muscle; Gaucher disease (β-glucocerebrosidase deficiency) to glucocerebroside accumulation; and Fabry disease (α-galactosidase A deficiency, X-linked) to globotriaosylceramide accumulation. Enzyme replacement therapies are available for all four, and outcomes improve when treatment begins before irreversible damage - the pre-symptomatic window that newborn screening provides.
Disease
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