Lysosomal Disorders Screening

Lysosomal Disorders Screening in DBS LC-MS/MS Analysis Kit

Lysosomes serve enzymes that metabolize excess sugars and lipids into substances which cells can utilize. As lysosomes do not function properly, these sugars and fats accumulate in the cell rather than being used or disposed of. Lysosomal storage diseases are rare but can cause death if left untreated. There are more than 50 types of lysosomal storage disease. The most common types in infants and children include:
• Gaucher
• Niemann-Pick
• Fabry
• Krabbe
• Pompe
• Mucopolysaccharidoses (MPS)

  • Highlights

    • Simultaneous screening of 5 lysosomal storage diseases (Pompe, Fabry, Krabbe, Gaucher and Niemann-Pick A/B)

    • Total run time is 7.5 min

    • Lyophilised cocktail of the substrates includes stable isotope standards of corresponding products

    • Simple and single sample preparation protocol for all parameters

  • Parameters

    GAA (α-Glucosidase), GLA (α-Galactosidase), GALC (Galactosylceramidase), GBA (β-glucocerebrosidase) and SMPD1 (Acid sphingomyelinase).

  • Matrix

    • Dried Blood Spot (DBS)

Sample Preparation


  • Step 1

    Place a 3 mm DBS punch in microtube (conical-1.5-mL polypropylene Eppendorf tube)

  • Step 2

    Incubate it for 16 h at 37°C, in an orbital shaker at 250 rpm

  • Step 3

    Quench the reaction by the addition of 100 μL of Reagent-1 and vortex for 5 sec.

  • Step 4

    Add 400 μL Reagent-2 and Reagent-3 and vorrtex for 10 sec.

  • Step 5

    Centrifuge the microtube at 4000 rpm for 5 min. at ambient temperature

  • Step 6

    Transfer 100 μL of the upper layer to a new microtube and dry it under a stream of nitrogen at room temperature

  • Step 7

    Add 200 μL of Reagent-4 to the microtube, pipette up and down 3 times

  • Step 8

    Transfer the final solution into a inserted-HPLC vial prior to injection

  • Chromatogram of Catecholamines

ADAPTING DIAGNOSTICS IN CHROMATOGRAPHY COUPLED MASS SPECTROMETRY..

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