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CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The CYP2R1 gene plays a critical role in the metabolism of vitamin D, specifically in the process of 25-hydroxylation, a crucial step in converting vitamin D to its active form in the body. Mutations in the CYP2R1 gene can lead to Vitamin D 25-Hydroxylation-Deficient Rickets Type 1B, a rare genetic disorder characterized by impaired bone growth and development due to the body’s inability to properly metabolize vitamin D. This condition highlights the importance of vitamin D in maintaining healthy bone structure and the potential consequences of its deficiency.

To diagnose this condition, a genetic test can be conducted to identify mutations in the CYP2R1 gene. In the UAE, this specific test is available at DNA Labs UAE, a facility known for its comprehensive genetic testing services. The cost of the CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B Genetic Test is 4400 AED. This test is crucial for early detection and management of the disorder, allowing for appropriate treatment strategies to be implemented, which may include vitamin D supplementation or other interventions to support bone health and development.

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CYP2R1 Gene Rickets vitamin D 25-hydroxylation-deficient type 1B Genetic Test

At DNA Labs UAE, we offer the CYP2R1 Gene Rickets vitamin D 25-hydroxylation-deficient type 1B Genetic Test at a cost of 4400.0 AED. This test is designed to diagnose individuals suspected of having a deficiency in vitamin D metabolism.

Test Details

The CYP2R1 gene is responsible for the production of an enzyme called vitamin D 25-hydroxylase. This enzyme plays a crucial role in converting vitamin D to its active form, which is essential for maintaining calcium and phosphate levels in the body.

Rickets is a condition characterized by weak and brittle bones, often caused by a deficiency in vitamin D. Vitamin D deficiency can occur due to inadequate sunlight exposure, dietary deficiencies, or genetic mutations affecting the enzymes involved in vitamin D metabolism.

Our NGS (Next-Generation Sequencing) genetic testing method allows us to analyze multiple genes simultaneously. In the context of rickets, this test can identify mutations or variations in the CYP2R1 gene that may be associated with vitamin D 25-hydroxylation deficiency, type 1B.

By identifying specific genetic variations, our NGS testing can help diagnose the underlying cause of rickets in individuals suspected of having a deficiency in vitamin D metabolism. This information is crucial for determining appropriate treatment strategies and management plans for affected individuals.

Test Components and Price

  • Test Name: CYP2R1 Gene Rickets vitamin D 25-hydroxylation-deficient type 1B Genetic Test
  • Price: 4400.0 AED

Sample Condition

We accept blood samples, extracted DNA, or one drop of blood on an FTA Card as the sample condition for this test.

Report Delivery

Reports will be delivered within 3 to 4 weeks after the sample is received.

Test Type

This test falls under the category of Metabolic Disorders.

Doctor and Test Department

  • Doctor: General Physician
  • Test Department: Genetics

Pre Test Information

Prior to the test, we recommend a genetic counseling session to gather the clinical history of the patient and draw a pedigree chart of family members affected with Rickets, vitamin D 25-hydroxylation-deficient, type 1B. This information will aid in the interpretation of the test results.

Test Name CYP2R1 Gene Rickets vitamin D 25-hydroxylation-deficient type 1B Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Rickets, vitamin D 25-hydroxylation-deficient, type 1B
Test Details

The CYP2R1 gene is responsible for the production of an enzyme called vitamin D 25-hydroxylase. This enzyme is involved in the conversion of vitamin D to its active form, which is essential for maintaining calcium and phosphate levels in the body.

Rickets is a condition characterized by weak and brittle bones, usually caused by a deficiency in vitamin D. Vitamin D deficiency can occur due to various reasons, including inadequate sunlight exposure, dietary deficiencies, or genetic mutations affecting the enzymes involved in vitamin D metabolism.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of rickets, an NGS genetic test can be used to identify mutations or variations in the CYP2R1 gene that may be associated with vitamin D 25-hydroxylation deficiency, type 1B.

By identifying specific genetic variations, NGS testing can help in diagnosing the underlying cause of rickets in individuals suspected of having a deficiency in vitamin D metabolism. This information can be useful for determining appropriate treatment strategies and management plans for affected individuals.

SKU: TEST-2617 Category:

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