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

• Main Authors: Zackary Herbst (Author), Coleman T. Turgeon (Author), Chad Biski (Author), Hamid Khaledi (Author), Nancy B. Shoemaker (Author), Patrick D. DeArmond (Author), Sara Smith (Author), Joseph Orsini (Author), Dietrich Matern (Author), Michael H. Gelb (Author)
• Format: Book
• Published: MDPI AG, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 multipl...