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Under the expanded program, which will begin in late 2007, three additional tests will be sourced from PerkinElmer including: congenital adrenal hyperplasia (CAH), a hormonal disorder affecting the adrenal glands; Galactosemia, which if left untreated, can cause poor development or death; and biotinidase deficiency (BIOT), which can lead to seizures, developmental delay, eczema and hearing loss. The researchers also showed that the compounds are resistant to breakdown by biotinidase enzymes. biotinidase deficiency; maple syrup urine disease; sickle cell anemia; and hearing screening. |
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