VDR Gene Rickets vitamin D-resistant type 2A Genetic Test
At DNA Labs UAE, we offer the VDR Gene Rickets vitamin D-resistant type 2A Genetic Test. This test is designed to diagnose and detect mutations in the VDR gene associated with vitamin D-resistant rickets type 2A.
Test Details
VDR gene rickets, also known as vitamin D-resistant rickets type 2A, is a rare genetic disorder that affects the body’s ability to respond to vitamin D. This condition is caused by mutations in the VDR gene, which provides instructions for making the vitamin D receptor protein.
The vitamin D receptor protein plays a crucial role in the body’s response to vitamin D. When vitamin D is absorbed into the body, it binds to the receptor protein, which then interacts with specific genes to regulate calcium and phosphate metabolism.
In individuals with VDR gene rickets, the mutated VDR gene prevents the receptor protein from functioning properly, leading to impaired calcium and phosphate regulation.
NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify mutations in the VDR gene associated with vitamin D-resistant rickets type 2A. This test involves sequencing the entire VDR gene to detect any abnormalities or mutations that may be present.
By identifying these mutations, healthcare professionals can confirm a diagnosis of VDR gene rickets and provide appropriate management and treatment options.
Test Components
- Test Name: VDR Gene Rickets vitamin D-resistant type 2A Genetic Test
- 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 VDR Gene Rickets, vitamin D-resistant, type 2A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VDR Gene Rickets, vitamin D-resistant, type 2A NGS Genetic DNA Test gene VDR
Cost
The cost of the VDR Gene Rickets vitamin D-resistant type 2A Genetic Test is 4400.0 AED.
Symptoms and Diagnosis
Individuals with VDR gene rickets may experience symptoms such as bone pain, muscle weakness, growth retardation, and skeletal deformities. Diagnosis of VDR gene rickets is confirmed through genetic testing, specifically NGS technology, which identifies mutations in the VDR gene.
Genetic Counseling
Due to the rarity of VDR gene rickets, genetic testing is typically only recommended for individuals with clinical symptoms suggestive of the disorder. Genetic counseling is also often recommended before and after testing to provide individuals and families with information about the condition, inheritance patterns, and available treatment options.
| Test Name | VDR Gene Rickets vitamin D-resistant type 2A 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 VDR Gene Rickets, vitamin D-resistant, type 2A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VDR Gene Rickets, vitamin D-resistant, type 2A NGS Genetic DNA Test gene VDR |
| Test Details | VDR gene rickets, also known as vitamin D-resistant rickets type 2A, is a rare genetic disorder that affects the body’s ability to respond to vitamin D. This condition is caused by mutations in the VDR gene, which provides instructions for making the vitamin D receptor protein. The vitamin D receptor protein plays a crucial role in the body’s response to vitamin D. When vitamin D is absorbed into the body, it binds to the receptor protein, which then interacts with specific genes to regulate calcium and phosphate metabolism. In individuals with VDR gene rickets, the mutated VDR gene prevents the receptor protein from functioning properly, leading to impaired calcium and phosphate regulation. NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify mutations in the VDR gene associated with vitamin D-resistant rickets type 2A. This test involves sequencing the entire VDR gene to detect any abnormalities or mutations that may be present. By identifying these mutations, healthcare professionals can confirm a diagnosis of VDR gene rickets and provide appropriate management and treatment options. It is important to note that VDR gene rickets is a rare condition, and genetic testing is typically only recommended for individuals with clinical symptoms suggestive of the disorder. Genetic counseling is also often recommended before and after testing to provide individuals and families with information about the condition, inheritance patterns, and available treatment options. |
