Genetic Test
The VDR (Vitamin D Receptor) gene encodes a nuclear receptor protein that binds to vitamin D₃ and mediates its biological activity.
This receptor plays a central role in regulating calcium and phosphate metabolism, bone mineralization, and immune system function.
Mutations in the VDR gene are associated with hereditary vitamin D-resistant rickets (HVDRR), a condition in which the body is unable to properly respond to vitamin D, leading to impaired bone development and mineralization.
The receptor is also involved in broader metabolic pathways, including those related to immune regulation and cancer suppression.
This genetic test targets a specific mutation in the VDR gene associated with vitamin D deficiency and resistance.
Disease Description
Vitamin D is essential for healthy bone development and helps prevent rickets by promoting calcium absorption and bone mineralization.
In this genetic disorder, even when adequate levels of vitamin D are present in the bloodstream, a mutation in the vitamin D receptor (VDR) impairs the body’s ability to utilize it properly.
As a result, calcium absorption from the intestines is reduced, leading to hypocalcemia (low blood calcium levels) and defective bone growth, which manifest clinically as rickets.
