Christopher A Haynes1, Víctor R De Jesús2. 1. Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA. Electronic address: cph7@cdc.gov. 2. Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.
Abstract
OBJECTIVES: Newborn screening for X-linked adrenoleukodystrophy utilizes tandem mass spectrometry to analyze dried-blood spot specimens. Quality control materials (dried-blood spots enriched with hexacosanoyl lysophosphatidylcholine) were prepared and stored at different temperatures for up to 518days to evaluate the stability of this biomarker for X-linked adrenoleukodystrophy. DESIGN AND METHODS: Dried-blood spot storage included desiccant (45, 171, and 518days) or omitted desiccant (53days at >90% relative humidity). Specimens were stored for 171 and 518days at -20°C, 4°C, ambient temperature, and 37°C. Each weekday for 45days, a bag of specimens stored at 4°C was warmed to ambient temperature and one specimen was removed for storage at -80°C. Specimens were analyzed by high-performance liquid-chromatography electrospray ionization tandem mass spectrometry and data was plotted as concentration (micromoles per liter) vs. time. Linear regression provided slope and y-intercept values for each storage condition. RESULTS: Small slope values (0.01 or less) and y-intercept values close to the enrichment indicated less than 11% loss of hexacosanoyl lysophosphatidylcholine under all storage conditions tested. CONCLUSIONS: Quality control materials for X-linked adrenoleukodystrophy are stable for at least 1year when stored with desiccant. Published by Elsevier Inc.
OBJECTIVES: Newborn screening for X-linked adrenoleukodystrophy utilizes tandem mass spectrometry to analyze dried-blood spot specimens. Quality control materials (dried-blood spots enriched with hexacosanoyl lysophosphatidylcholine) were prepared and stored at different temperatures for up to 518days to evaluate the stability of this biomarker for X-linked adrenoleukodystrophy. DESIGN AND METHODS: Dried-blood spot storage included desiccant (45, 171, and 518days) or omitted desiccant (53days at >90% relative humidity). Specimens were stored for 171 and 518days at -20°C, 4°C, ambient temperature, and 37°C. Each weekday for 45days, a bag of specimens stored at 4°C was warmed to ambient temperature and one specimen was removed for storage at -80°C. Specimens were analyzed by high-performance liquid-chromatography electrospray ionization tandem mass spectrometry and data was plotted as concentration (micromoles per liter) vs. time. Linear regression provided slope and y-intercept values for each storage condition. RESULTS: Small slope values (0.01 or less) and y-intercept values close to the enrichment indicated less than 11% loss of hexacosanoyl lysophosphatidylcholine under all storage conditions tested. CONCLUSIONS: Quality control materials for X-linked adrenoleukodystrophy are stable for at least 1year when stored with desiccant. Published by Elsevier Inc.
Entities:
Keywords:
Dried-blood spot; Lysophosphatidylcholine; Newborn screening; Tandem mass spectrometry; X-linked adrenoleukodystrophy
Authors: L Bezman; A B Moser; G V Raymond; P Rinaldo; P A Watkins; K D Smith; N E Kass; H W Moser Journal: Ann Neurol Date: 2001-04 Impact factor: 10.422
Authors: Walter C Hubbard; Ann B Moser; Anita C Liu; Richard O Jones; Steven J Steinberg; Fred Lorey; Susan R Panny; Robert F Vogt; Daniela Macaya; Coleman T Turgeon; Silvia Tortorelli; Gerald V Raymond Journal: Mol Genet Metab Date: 2009-04-01 Impact factor: 4.797
Authors: Femke C C Klouwer; Kevin Berendse; Sacha Ferdinandusse; Ronald J A Wanders; Marc Engelen; Bwee Tien Poll-The Journal: Orphanet J Rare Dis Date: 2015-12-01 Impact factor: 4.123