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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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