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