Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease.

Autor:	Herbst Z; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA., Turgeon CT; Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN 55905, USA., Biski C; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201-2002, USA., Khaledi H; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA.; GelbChem LLC, 4000 Mason Road, Seattle, WA 98195, USA., Shoemaker NB; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., DeArmond PD; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Smith S; PerkinElmer Genomics, Pittsburgh, PA 15275, USA., Orsini J; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201-2002, USA., Matern D; Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN 55905, USA., Gelb MH; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA.
Jazyk:	angličtina
Zdroj:	International journal of neonatal screening [Int J Neonatal Screen] 2020 Jun; Vol. 6 (2). Date of Electronic Publication: 2020 Mar 31.
DOI:	10.3390/ijns6020029
Abstrakt:	Measurement of the absolute concentration of the biomarker psychosine in dried blood spots (DBS) is useful for diagnosis and prognosis of Krabbe disease and to support newborn screening of this leukodystrophy. As for assays for more common diseases, it is important to achieve congruence when multiple clinical laboratories provide testing. Four clinical laboratories, one research laboratory, and a commercial vendor collaborated with the goal to achieve congruence in quantitative psychosine measurement in DBS. A set of DBS calibrators was prepared by a single vendor and used in each reference laboratory to make a standard curve of measured psychosine in DBS versus the stated calibrator psychosine level. Congruence between the participating five laboratories was achieved using the psychosine DBS calibrators. This allowed application of disease-specific reference ranges obtained by the reference laboratory with the most extensive data by the other reference laboratories. Congruence between multiple reference laboratories in the measurement of the absolute concentration of biomarkers in DBS (and by extension other samples) is possible by the use of a common set of DBS calibrators. Competing Interests: Conflicts of Interest: M.H.G. is a consultant for PerkinElmer, Corp. and a co-founder of GelbChem LLC, the other authors declare no conflicts of interest.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu