Proficiency Testing for CF Newborn Screening
نویسندگان
چکیده
منابع مشابه
Preliminary proficiency testing results for succinylacetone in dried blood spots for newborn screening for tyrosinemia type I.
BACKGROUND Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I--an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories measure SUAC in dried blood spot (DBS) samples to detect asymptomatic tyrosinemia type I. We used panels of SUAC-enriched DBSs to compare and evaluate th...
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These suggestions are as follows: 1) Regular use of certified reference materials and/or internal quality control using secondary reference materials 2) Participation in interlaboratory comparison or proficiency testing programs 3) Replicate tests or calibrations using the same or different methods 4) Retesting or recalibration of retained items 5) Correlation of results for different character...
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The European Diagnostic Working Group presented comprehensive diagnostic algorithms for cystic fibrosis (CF) and confirmed the fundamental role of the sweat test for the diagnosis of CF. However, several important differences between well-accepted guidelines for sweat testing 3 and the recommendations of the Working Group need to be discussed. An adequate sweat sampling volume depends on the sa...
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Far too many laboratories consider proficiency testing just a necessary evil, little more than periodic pass–fail exercises we perform solely to meet regulatory requirements. In addition, too many of us belittle point-ofcare (POC) testing as a passing fad, a technology so inferior to what we use in our own laboratories that it hardly warrants our attention. Clearly, a report that combines these...
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To the Editor: The diagnosis of cystic fibrosis (CF) based on clinical history may not detect mild conditions of this disease and may lead to the death of patients with severe conditions prior to genotyping and diagnosis; as a result, certain genotypes may be underdiagnosed. In Brazil, the first study on mutation frequency in children with CF who were screened at birth was conducted by Perone e...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2009
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(09)60047-3