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CYP27B1 Gene Rickets Vitamin D Dependent Type 1 Genetic Test Cost

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

-21%

The CYP27B1 Gene Rickets Vitamin D Dependent Type 1 Genetic Test is a specialized diagnostic examination offered by DNA Labs UAE, aimed at detecting mutations in the CYP27B1 gene. This gene plays a crucial role in the metabolism of vitamin D, which is essential for maintaining healthy bones. Mutations in the CYP27B1 gene can lead to Vitamin D-dependent rickets type 1, a rare genetic disorder characterized by bone weakness, skeletal deformities, and in some cases, muscle weakness and growth delays. The condition arises due to the body’s inability to convert vitamin D into its active form, leading to calcium and phosphorus imbalances that affect bone mineralization.

The test is priced at 4400 AED and involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any genetic alterations in the CYP27B1 gene. This test is crucial for early diagnosis and management of the condition, allowing for appropriate treatment strategies, such as vitamin D supplementation in its active form, to be implemented. Early detection and treatment can significantly improve the quality of life for individuals with Vitamin D-dependent rickets type 1, making this test a valuable tool in genetic and pediatric healthcare.

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CYP27B1 Gene Rickets vitamin D dependent type 1 Genetic Test

At DNA Labs UAE, we offer the CYP27B1 Gene Rickets vitamin D dependent type 1 Genetic Test at a cost of AED 4400.0. This test is designed to diagnose individuals with VDDR1, a rare genetic disorder caused by mutations in the CYP27B1 gene.

Test Details

The CYP27B1 gene is responsible for encoding an enzyme called 25-hydroxyvitamin D-1-hydroxylase. This enzyme plays a crucial role in the conversion of 25-hydroxyvitamin D (calcidiol) to its active form, 1,25-dihydroxyvitamin D (calcitriol). Calcitriol is essential for maintaining calcium and phosphate homeostasis in the body.

VDDR1 is characterized by skeletal abnormalities and bone deformities, which are a result of the impaired conversion of calcidiol to calcitriol due to mutations in the CYP27B1 gene. Individuals with VDDR1 are unable to adequately absorb calcium and phosphorus from their diet.

NGS Technology

We use NGS (Next-Generation Sequencing) technology for the CYP27B1 Gene Rickets vitamin D dependent type 1 Genetic Test. NGS allows for the simultaneous sequencing of multiple genes or even the entire genome, providing a comprehensive analysis of genetic variations within the CYP27B1 gene.

Test Components

  • Price: AED 4400.0
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Test Type: Osteology Dermatology Immunology Disorders
  • Doctor: Dermatologist
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the CYP27B1 Gene Rickets vitamin D dependent type 1 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by VDDR1.

Conclusion

The CYP27B1 Gene Rickets vitamin D dependent type 1 Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing VDDR1. By identifying mutations in the CYP27B1 gene, this test can guide appropriate treatment and management strategies for individuals with this rare genetic disorder.

Test Name CYP27B1 Gene Rickets vitamin D dependent type 1 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 Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic DNA Test gene CYP27B1
Test Details

The CYP27B1 gene is responsible for encoding an enzyme called 25-hydroxyvitamin D-1-hydroxylase. This enzyme plays a crucial role in the conversion of 25-hydroxyvitamin D (calcidiol) to its active form, 1,25-dihydroxyvitamin D (calcitriol). Calcitriol is the biologically active form of vitamin D, and it is essential for maintaining calcium and phosphate homeostasis in the body.

Rickets, vitamin D dependent, type 1 (also known as VDDR1) is a rare genetic disorder caused by mutations in the CYP27B1 gene. These mutations lead to a deficiency in the 1-hydroxylase enzyme, resulting in impaired conversion of calcidiol to calcitriol. As a result, individuals with VDDR1 are unable to adequately absorb calcium and phosphorus from their diet, leading to skeletal abnormalities and bone deformities characteristic of rickets.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic analysis that allows for the simultaneous sequencing of multiple genes or even the entire genome. In the context of VDDR1, NGS genetic testing can be used to identify mutations in the CYP27B1 gene that are responsible for the disorder. This type of testing can provide a comprehensive analysis of the genetic variations within the gene, helping to diagnose VDDR1 and guide appropriate treatment and management strategies.

SKU: TEST-3244 Category:

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