Unprecedented insights into an ultra-rare disorder
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
CENTOGENE’s strategy to provide accurate genetic diagnoses incorporates standardized compilation and curation of clinical observations. Its sample collection platform CentoCard®, in addition, facilitates biochemical analysis in a research setting for consented cases. The resulting datasets are unique as they enable a conceptual connection of genotypic, phenotypic and biomarker levels. The success of this approach was demonstrated by using the ultra-rare Hyaline Fibromatosis Syndrome as an example. The corresponding study was published in the prestigious Orphanet Journal of Rare Diseases on 27/08/2019.