1. Diagnostic Utility of Biomarkers

Diagnostic Utility of Biomarkers

Vindhya Lakmali Miyanawala 1 Christian Beetz 2 Samantha Waidyanatha 1 Sabine Schröder 2 Vasiliki Karageorgou 2 Dr. rer. nat. Claudia Cozma, MD 2 Eresha Jasinge 1 Prof. Arndt Rolfs, MD 2, 3
1 Lady Ridgeway Hospital for Children 2 CENTOGENE AG 3 University of Rostock
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