New Born Screening

Newborn screening is intended to identify inborn error of metabolism thereby making early therapeutic interventions and decreasing likelihood of mortality or lifelong disability. Tandem mass spectrometry (MS/MS) detects abnormal levels of amino acids, free carnitine and acylcarnitines indicating defects of amino acid metabolism such as phenylketonuria(PKU) and maple syrup urine disease (MSUD), defects of organic acid oxidation metabolism and fatty acid oxidation metabolic disorders on account of enzyme deficiency in biochemical pathways.
Jasem’s newborn screening of amino acids and acylcarnitines extracted from a single of a dried-blood spot (DBS), with stable-isotope-labeled internal standards and without derivatization, can be performed with 3.5 min of instrument time.

  • Features

    • Analysis from DBS extraction without derivatization
    • Profile of amino acids&free carnitine/acylcarnitines could be modified/widened for clinical applications
    • Consisting of three scan types-Precursor Ion, Neutral Loss and MRM in the sequence
  • Parameters

    Alanine, Arginine, Aspartic acid, Citrulline, Gutamic acid, Glycine, Leucine,Methionine, Ornithine, Phenylalanine, Proline, Tyrosine, Valine, Free carnitine,C2 Acetyl carnitine, C3 Propionyl carnitine, C4 Butyryl carnitine, C5 Isovaleryl carnitine, C8 Octanoyl carnitine, C14 Myristoyl carnitine, C16 Palmitoyl carnitine.


    • 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

  • Chromatogram of Precursor Ion, Neutral Loss and MRM Scannıng

Sample Preparation for DBS

  • Step 1

    Punch 3.0 mm of specimen from DBS

  • Step 2

    Add 100 µl of IS mixture for extraction and shake gently 15 minutes

  • Step 3

    Transfer the supernatant to a vial and inject to LC-MS/MS system



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