NEONATAL SCREENING

NEWBORN SCREENING LC-MS/MS 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-min. 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)

Precursor ion scanning: Detection of characteristic mass fragments (85 m/z) for Carnitine/Acylcarnitine.

Neutral Loss: Identification of 46 m/z mass fragments for amino acids.

MRM: Determination of all spesific mass fragments for Amino acids and Carnitine/Acylcarnitine

Sample Preparation for DBS


  • 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 min. at room temperature

  • Step 4

    Pipette the supernatant into an insert-fitted HPLC vial prior to injection

  • Chromatogram of Precursor Ion, Neutral Loss and MRM Scannıng

ADAPTING DIAGNOSTICS IN CHROMATOGRAPHY COUPLED MASS SPECTROMETRY..

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