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

1
Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA
2
Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN 55905, USA
3
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201-2002, USA
4
GelbChem LLC, 4000 Mason Road, Seattle, WA 98195, USA
5
Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA
6
PerkinElmer Genomics, Pittsburgh, PA 15275, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 29; https://doi.org/10.3390/ijns6020029
Received: 4 March 2020 / Revised: 25 March 2020 / Accepted: 30 March 2020 / Published: 31 March 2020
(This article belongs to the Special Issue Newborn Screening and Follow-Up Diagnostic Testing for Krabbe Disease)
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. View Full-Text
Keywords: newborn screening; biomarkers; mass spectrometry; Krabbe disease newborn screening; biomarkers; mass spectrometry; Krabbe disease
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MDPI and ACS Style

Herbst, Z.; Turgeon, C.T.; Biski, C.; Khaledi, H.; Shoemaker, N.B.; DeArmond, P.D.; Smith, S.; Orsini, J.; Matern, D.; Gelb, M.H. Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease. Int. J. Neonatal Screen. 2020, 6, 29.

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