Diagnostic Utility of Biomarkers
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.