Abstract
The German screening panel includes two endocrine and 12 metabolic disorders. The two most common endocrine disorders in childhood, congenital hypothyroidism and adrenal hyperplasia, are detected by thyroid stimulating hormone and 17-hydroxyprogesterone. Tandem mass spectrometry is used for searching for disorders in amino acid, fatty acid and organic acid metabolism. The blood sample has to be collected without additives through heel or vein puncture by dropping the blood on the sample card between 36 and 72 h after birth. All specimens must be sent to the laboratory on the day of collection. Correct preanalytics, sample shipping, fast analytics and immediate confirmation diagnostics are prerequisites for successful newborn screening.
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