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Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Adam, Barbara W. Flores, Sharon R. Hou, Yu Allen, Todd W. De Jesus, Victor R.
Description	Author Affiliation: Adam BW ( Centers for Disease Control and Prevention (CDC), 4770 Buford Highway NE, Atlanta, GA 30341, USA. Electronic address: barbaraadam@att.net.); Flores SR ( Centers for Disease Control and Prevention (CDC), 4770 Buford Highway NE, Atlanta, GA 30341, USA.); Hou Y ( Genetic Disease Laboratory Branch, California Department of Public Health, 850 Marina Bay Pkwy, Richmond, CA 94804, USA.); Allen TW ( Astoria-Pacific, Inc., 15130 SE 82nd Drive, P.O. Box 830, Clackamas, OR 97015, USA.); De Jesus VR ( Centers for Disease Control and Prevention (CDC), 4770 Buford Highway NE, Atlanta, GA 30341, USA.)
Abstract	OBJECTIVES: We aimed to prepare dried-blood-spot (DBS) quality control (QC) materials for galactose-1-phosphate uridyltransferase (GALT), to evaluate their stability during storage and use, and to evaluate their performance in five DBS GALT test methods. DESIGN AND METHODS: We prepared and characterized GALT-normal and GALT-deficient DBS materials and compared GALT activities in DBSs after predetermined storage intervals at controlled temperatures and humidities. External evaluators documented the suitability of the DBS QC materials for use in five GALT test methods. RESULTS: GALT activity losses from DBSs stored in low (<30%) humidity for 14 days at 45°C, 35 days at 37°C, 91 days at room temperature, 182 days at 4°C, and 367 days at -20°C were 54%, 53%, 52% 23%, and 7% respectively. In paired DBSs stored in high humidity (>50%) for identical intervals, losses were: 45°C-68%; 37°C-79%; room temperature-72%, and 4°C-63%. GALT activities in DBSs stored at 4°C were stable throughout 19 excursions to room temperature. Twenty-five of 26 external evaluators, using five different GALT test methods, classified the GALT-deficient DBSs as 'outside normal limits'. All evaluators classified the GALT-normal DBSs as 'within normal limits'. CONCLUSIONS: Most of the GALT activity loss from DBSs stored at elevated or room temperature was attributable to the effects of storage temperature. Most of the loss from DBSs stored at 4°C was attributable to the effects of elevated humidity. Loss from DBSs stored at -20°C was insignificant. The DBS materials were suitable for monitoring performance of all five GALT test methods.
File Format	HTM / HTML
ISSN	00099120
e-ISSN	18732933
DOI	10.1016/j.clinbiochem.2014.12.009
Journal	Clinical Biochemistry
Issue Number	6
Volume Number	48
Language	English
Publisher	Elsevier
Publisher Date	2015-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Biochemistry Galactosemias Diagnosis Utp-hexose-1-phosphate Uridylyltransferase Blood Dried Blood Spot Testing Enzyme Assays Enzyme Stability Enzymology Infant, Newborn Neonatal Screening Preservation, Biological Quality Assurance, Health Care Chemistry
Content Type	Text
Resource Type	Article
Subject	Medicine Clinical Biochemistry

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Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests.

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Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.

Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests.