Advancing Rickets Diagnosis Through Genomics
Rickets is a group of disorders characterized by impaired bone mineralization, resulting in soft and weakened bones during childhood. While nutritional deficiencies are the most common cause, inherited forms of rickets arise from pathogenic variants in genes involved in vitamin D metabolism, phosphate homeostasis, and bone mineralization.
Genetic testing plays an important role in establishing an accurate diagnosis, distinguishing inherited rickets from acquired forms, and guiding appropriate treatment and family counselling. At Amplexa Genetics, we offer comprehensive genetic testing for inherited forms of rickets using advanced next-generation sequencing (NGS) technology to support clinicians in the diagnosis and management of these rare disorders.
