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NEONATAL SCREENING

Newborn Screening in DBS LC-MS/MS Analysis Kit

Newborn screening (NBS) is the blood test (frequently collecting blood specimen by heel prick) which newborn infants are screened just after nativity for a list of diseases that can evoke life threatening and/or intellectual disability unless uncovered and treated. Screening programs are run with the goal of preventing or diminishing genetic, metabolic, hormonal, and functional disorders through appropriate referral and early treatment.

  • Highlights

    Analysis from DBS extract without derivatization.

    Quick sample preparation-just pipette and agitate at room temperature.

    2-minute simultaneous analysis of 14 amino acids and 37 free carnitine/acylcarnitines.

  • Parameters

    Alanine, Arginine, Argininosuccinic Acid, Citrulline, Glutamic Acid, Glycin, Leucine, Methionine, Ornithine, Phenylalanine, Proline, Tyrosine, Valine
    C0, C2, C3, C3DC + C4-OH, C4, C4DC + C5-OH, C5, C5DC, C5:1, C6, C6:1, C6-OH, C8, C8DC, C8:1, C10, C10DC, C10:1, C10:1-OH, C10:2, C12, C12DC, C12:1, C12:1-OH, C14, C14:1, C14:2, C16, C16:1, C16:1-OH, C16-OH, C18, C18:1, C18:1-OH, C18:2, C18-OH

  • Matrix

    Dried Blood Spot (DBS)

Sample Preparation

  • Step 1
    Punch 3 mm of dried blood spot sample/control into an eppendorf tube.
  • Step 2
    Add 100 µl of IS mixture (for extraction).
  • Step 3
    Gently shake for 15 minutes at room temperature.
  • Step 4
    Pipette the supernatant into an insert-fitted HPLC vial prior to injection.

  • Chromatogram

ADAPTING DIAGNOSTICS IN CHROMATOGRAPHY COUPLED MASS SPECTROMETRY..
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