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Tandem Mass Spectrometry – The Most Reliable PKU Test

Mass spectrometry is an laboratory analytical method designed to measure different molecular weight from blood sample in just one single test. This technique is being done with the Mass spectrometer instrument, which can be divided into three main parts: the ionisation source, the analyser and the detector.

Tandem mass spectrometry is using tandem mass spectrometers – instruments that have more than one analyser and can quickly sort biochemically molecules of similiar weight. PKU screening test with Tandem mass spectrometry method is more reliable than other tests and, at the same time, reduces the number of falsely positive PKU results. In some rare instances, babies with the elevated phenylalanine (phe) levels can suffer from other conditions – such as liver disease – and not necessarily from phenylketonuria.

Tandem mass spectrometry examines both phe and tyrosine levels in newborns’ blood, which is very important because older test methods only look for phe levels. Studies show that almost all the babies with PKU disorder had a high level of phe compared to tyrosine.

Want to learn more?


“The PKU Paradox: A Short History of a Genetic Disease” by Diane B. Paul and Jeffrey P. Brosco.

“Robert Guthrie–The Pku Story: Crusade Against Mental Retardation” by Jean Holt Koch.

“Low Protein Cookery for Phenylketonuria” by Virginia E. Schuett.

“Low Protein Food List for PKU” by Virginia E. Schuett.

“Low Protein Bread Machine Baking for PKU” by Virginia E. Schuett.

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