Mass Spectrometry Test Launched for Newborn Disorders

Next-generation mass spectrometry-based solution has been launched to analyze dried blood spots from newborn babies to test for wide range of metabolic disorders.

This new in-vitro diagnostic (IVD) kit is intended for the semi-quantitative measurement and evaluation of amino acid, succinylacetone, free carnitine, acylcarnitine, nucleoside and lysophospholipid concentrations. The kit analyzes newborn heel prick blood samples dried on filter paper and is used with a tandem mass spectrometer.


The NeoBase2 non-derivatized MSMS kit (PerkinElmer, Inc, Waltham, MA; USA) can test for up to 57 analytes, including markers for screening of X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder. It can also screen for adenosine deaminase severe combined immunodeficiency (ADA-SCID), which is caused by a deficiency of the enzyme ADA and is the second most common SCID.

The NeoBase2 MSMS kit enables labs to use a simple three-step assay workflow to screen for more disorders in less time from a single dried blood spot punch. PerkinElmer’s optional MSMS Workstation software, which includes database functionality, helps laboratories effectively store, manage, review and report results. The analysis time per sample for the whole acylcarnitine and amino acid profile is typically less than two minutes. The kit includes internal standards for the following acylcarnitines and amino acids: Acylcarnitines C0 (free Carnitine), C2, C3, C4, C5, C5DC, C6, C8, C10, C12, C14 C16, and C18; Amino acids Glycine, Alanine, Valine, Leucine, Methionine, Phenylalanine, Tyrosine, Ornithine, Citrulline, Arginine and Proline.

Linh Hoang MD, PhD, Vice President, Neonatal Screening at PerkinElmer, said, “As the industry leader in mass spectrometry-based newborn screening, we continue to evolve our technologies to meet the needs of laboratories worldwide, especially as more countries mandate certain metabolic tests such as those for SCIDs and peroxisomal disorders. As these labs face pressure to screen for more disorders in less time and with limited resources, they are seeking advanced technology to expand their MSMS testing capabilities.”