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Diagnostic Utility of Biomarkers

Vindhya Lakmali Miyanawala Christian Beetz Samantha Waidyanatha Sabine Schröder Vasiliki Karageorgou Dr. rer. nat. Claudia Cozma, MD Eresha Jasinge Prof. Arndt Rolfs, MD
November 25, 2019

Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

Classification of genomic variants in a disease context is a highly formalized process, which benefits from diverse types of information. At CENTOGENE, this routinely involves the quantification of disease-specific biomarkers in a patient sample. The utility of this approach for deriving an unambiguous diagnostic statement was recently demonstrated in the Journal of Biochemical and Clinical Genetics