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Cystic fibrosis confirmatory DNA testing recommended in ASTPHL draft document.

This article was originally published in The Gray Sheet

Executive Summary

CYSTIC FIBROSIS CONFIRMATORY TESTING BY DNA ANALYSIS recommended in a testing standardization document drafted by the Association of State and Territorial Public Health Laboratories. The ASTPHL draft document states that newborns showing "elevated" levels of the pancreatic enzyme immunoreactive trypsin (IRT) should undergo genetic analysis for the delta F 508 mutation, since 70% of CF patients in North America share the defect.
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