Non Invasive Urine Collection
More Accurate than a blood-based test
The American College of Medical Genetics (ACMG) actually recommends urine organic analysis as the diagnosis step for many of metabolic disorder, should there be a positive newborn screening result using the dried blood spot analysed by tandem mass spectrometry (MS/MS).3,4

Ion ofm/z 177 at 4.8 min and that ofm/z 479 at 9.98 and 10.02 are due to 3-hydroxypropionate (di-TMS) and diastereomers of methylcitrate (tetra-TMS), respectively. The ion ofm/z327 at 11.8 min is due to n-heptadecanoate (mono-TMS) used as an internal standard: 50 nmole was spiked in 0.1 ml of urine or serum.
More Accurate than a blood-based test
Metascreen® is a highly reliable newborn screening test as it combines the following systems to detect metabolic disorders:
Gas Chromatography-Mass Spectrometry (GC-MS)
- FDA approved method for urinary detection of chemical substance (“analyte”);
- Gold standard for lipids, drug metabolites and environmental analysis;
- Detects more than 250 compounds for the screening of over 100 Inborn errors of metabolism (“IEMs”) from urine
- Chromatography separates potentially interfering compounds, such as drugs, also excreted in the urine, so the integrity of the test result is intact.
- Uses multiple analytes to detect one single metabolic disorder.
- Benchmarked against international and local database of normal samples for the identification of an abnormal case.
Metabolic Disorder | Analytes used with GC-MS | Analytes used with other technology (e.g MS/MS) |
---|---|---|
Phenylketonuria (PKU) |
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Maple Syrup Urine Disease(MSUD) |
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Isovaleric acidemia (IVA) |
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Below is a complete list of the metabolic disorders that can be detected with Metascreen®.
- Acid and organic acid metabolism disorders
- Sugar metabolism disorders
- Fatty acid metabolism disorders
- Peroxisomal disorders
- Purine & pyrimidine metabolism disorders
- Lactic acid, hyperpyruvic acid metabolic disorders
- Other IEMs
For more information about the conditions, please visit the following websites:
American College of Medical Genetics and Genomics
Genetics Home Reference
Online Mendelian Inheritance in Man
Orphanet
PubMed
References:
- Bouatra S, Aziat F, Mandal R, et al. The Human Urine Metabolome. PLoS ONE 8(9): e73076. Doi: 10.1371/journal.pone.0073076.
- Kuhara T, Shinka T, Inoue Y, et al. Chromatography B, 731 (1999) 141-147.
- ACMG ACT Sheets and Confirmatory Algorithms.
https://www.acmg.net/ACMG/Resources/ACMG/Resources/ACT_Sheets_and_Confirmatory_Algorithms/ACT_sheets_Homepage.aspx?hkey=759c3556-90cb-42a7-ba8d-af07742bf941. Accessed on 24 January 2014. - ACMG Standards and Guidelines for Clinical Genetics Laboratories 2006 Edition. https://www.acmg.net/pages/acmg_activities/stds-2002/f.htm Accessed on 24 October 2016