Calcium Metabolism
A test for detecting vitamin D receptor (VDR) 283 A>G gene polymorphism affecting calcium metabolism in the human body.
Category «Genetics»
Calcium Metabolism
Calcium is an essential element in the human body with a key role in bone formation, nerve impulse transmission, muscle contraction, blood coagulation and other physiological processes. Adequate calcium levels in blood and tissues are maintained by a complex regulatory system in which vitamin D and its receptor (VDR) play an important role. Vitamin D promotes calcium absorption in the intestine, its reabsorption in the kidneys and mobilization from bone tissue. VDR is a nuclear receptor that is activated by vitamin D and regulates the expression of multiple genes involved in calcium metabolism.
The 283 A>G VDR gene polymorphism affects the function of the vitamin D receptor and, consequently, influences calcium metabolism in the body. The presence of this polymorphism can alter the sensitivity of the receptor to vitamin D, which leads to impaired calcium absorption and changes in its levels in the blood. Patients with this polymorphism may have an increased risk of developing diseases associated with calcium metabolism disorders, such as osteoporosis and osteomalacia, as well as other pathological conditions associated with calcium levels in the body.
Indications for testing
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Pregnancy planning; -
Family history of osteoporosis; -
Symptoms of hypercalcemia; -
Symptoms of calcium deficiency; -
Frequent muscle cramps; -
Monitoring the effectiveness of treatment of calcium metabolism disorders.
Calcium Metabolism
The “Genetics of metabolism” assay allows detection of a range of genetic polymorphisms associated with metabolic disorders. The employed Real-time PCR method discriminates alleles thus providing genotype information that aids in the evaluation of the genetic background of current clinical conditions or to estimate odds of disease development.
Calcium Metabolism REAL-TIME PCR Genotyping Kit is intended for detection and allelic discrimination of genetic polymorphisms associated with inherited risk of calcium exchange impairment.
Sample:peripheral blood
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