Special Issue "Application of LC-MS/MS Technology in Newborn Screening"

Dear Colleagues,

Newborn screening enables early diagnosis of several genetic diseases, particularly inborn errors of metabolism (IEMs), thereby allowing timely, targeted management and treatment. Over the past few decades, liquid chromatography–tandem mass spectrometry (LC-MS/MS) has become a key technology in this field, rapidly replacing the classic screening techniques of one-analysis, one-metabolite, one-disease with one-analysis, many-metabolites, and many-diseases. Since its introduction, the list of target analytes has been expanded thanks to the addition of new metabolites to acylcarnitines and aminoacids, thus allowing the rapid expansion of the number of diseases included in the screening panel. More recently, LC-MS/MS tests were developed to screen for lysosomal storage disorder (LSD) by the measurement of residual enzyme activities.

LC-MS/MS can also be applied in positive screening samples as a second-tier test to reduce the false positive rate; it can subsequently be used for confirmatory analysis and follow-up of affected patients.

This Special Issue of Separations entitled “Application of LC-MS/MS Technology in Newborn Screening” seeks papers on the following topics:

• Application in NBS practice, both first tier and second tier;
• New LC-MS/MS tests for NBS of new conditions;
• LC-MS/MS second-tier tests and impact on positive predictive values;
• Challenges in NBS by LC-MS/MS and how to resolve them.

Dr. Giulia Polo
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Separations is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• Newborn screening
• FIA-MS/MS
• Second-tier test
• Sample preparation
• Dried blood spots
• Acylcarnitines
• Aminoacids
• Inborn error of metabolism
• Lysosomal storage disorder
• Biomarkers