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Hyperphenylalaninemia most is commonly diagnosed by newborn screening and must be distinguished from classic PKU by confirmatory testing at an experienced center. Some cases in adult women have been detected using maternal screening programs or following birth of children with birth defects.
She had two children, Liv and Dag, who had been normal at birth but subsequently developed intellectual disability. When Dag was about a year old, the mother noticed a strong smell to his urine. Følling obtained urine samples from the children and, after many tests, he found that the substance causing the odor in the urine was phenylpyruvic acid.
Because of the multiplicity of conditions, many different diagnostic tests are used for screening. An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis. [citation needed] Gas chromatography–mass spectrometry (GCMS) machine. Common screening tests used in the last sixty years: [citation needed]
Dried blood spot testing (DBS) is a form of biosampling where blood samples are blotted and dried on filter paper. The dried samples can easily be shipped to an analytical laboratory and analysed using various methods such as DNA amplification or high-performance liquid chromatography .
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
In infants and young children, urine may be collected into a bag attached to the genital region, but this is associated with a high risk of contamination. [8] If the sample is not tested promptly, inaccurate results can occur because bacteria in the urine will multiply and elements such as cells and casts will degrade. It is recommended that ...
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The test has been widely used throughout North America and Europe as one of the core newborn screening tests since the late 1960s. The test was initially a bacterial inhibition assay , but is gradually being replaced in many areas by newer techniques such as tandem mass spectrometry that can detect a wider variety of congenital diseases .