LMP301H1 Lecture Notes - Lecture 21: Newborn Screening, Sickle-Cell Disease, Mass Spectrometry
14 Sep 2016
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Lecture 21 newborn screening: screened within 24-48 hrs, blood collected at heel. Deficiency in any of the pathway impairs pah. Diagnosis for biopterin defects: phe decreases in response to biopterin but not. Tandem mass spectroscopy, newer, screen 40+ diseases including: congenital hypothyroidism, sickle cell, mcad, cystic fibrosis. Screening vs. testing: everyone is screened (unless parents wish not to, testing only on suspected individuals, principles of nbs. Testing is safe, simple, and sensitive (will catch all instances of disease) Specific confirmatory testing available (to rule out false positives)
