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


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