CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B NGS Genetic DNA Test
Understanding CYP2R1 Gene Rickets and Vitamin D Metabolism
The CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for vitamin D metabolism disorders. This specialized test focuses on identifying mutations in the CYP2R1 gene, which plays a critical role in the conversion of vitamin D to its active form. The CYP2R1 gene encodes the enzyme 25-hydroxylase, responsible for the first step in vitamin D activation – converting vitamin D3 to 25-hydroxyvitamin D. When this gene contains mutations, individuals develop vitamin D-dependent rickets type 1B, characterized by impaired bone mineralization and skeletal abnormalities.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic test specifically targets:
- Mutations in the CYP2R1 gene affecting vitamin D 25-hydroxylation
- Genetic variations responsible for vitamin D-dependent rickets type 1B
- Inherited patterns of vitamin D metabolism disorders
- Specific nucleotide changes impacting enzyme function
- Both inherited and de novo mutations in the CYP2R1 gene
Clinical Significance of CYP2R1 Testing
The CYP2R1 gene is located on chromosome 11p15.2 and encodes the mitochondrial enzyme cytochrome P450 family 2 subfamily R member 1. This enzyme is predominantly expressed in the liver and is essential for converting vitamin D3 (cholecalciferol) to 25-hydroxyvitamin D3, the major circulating form of vitamin D. Mutations in this gene disrupt this critical metabolic step, leading to decreased levels of 25-hydroxyvitamin D despite adequate vitamin D intake and sunlight exposure.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Early-onset rickets in infancy or childhood
- Bone deformities including bowlegs or knock-knees
- Delayed growth and short stature
- Muscle weakness and pain
- Dental abnormalities and delayed tooth eruption
- Hypocalcemia symptoms (muscle cramps, seizures)
- Family history of vitamin D-resistant rickets
- Normal or elevated vitamin D levels with clinical rickets
- Poor response to conventional vitamin D supplementation
Special Considerations for Testing
Individuals with a family history of CYP2R1 mutations should consider genetic counseling and testing. The condition follows an autosomal recessive inheritance pattern, meaning both parents must carry a mutation for a child to be affected. Carrier testing is available for family planning purposes.
Comprehensive Benefits of CYP2R1 Genetic Testing
- Accurate Diagnosis: Provides definitive diagnosis of vitamin D-dependent rickets type 1B
- Personalized Treatment: Guides appropriate vitamin D metabolite therapy
- Family Planning: Enables informed reproductive decisions and carrier testing
- Early Intervention: Allows for prompt treatment to prevent skeletal complications
- Differential Diagnosis: Distinguishes from other forms of rickets and bone disorders
- Prognostic Information: Helps predict disease course and treatment response
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the CYP2R1 gene. This confirms the diagnosis of vitamin D-dependent rickets type 1B. Treatment typically involves supplementation with calcifediol (25-hydroxyvitamin D) rather than conventional vitamin D, as this bypasses the enzymatic defect.
Negative Result Interpretation
A negative result suggests that no pathogenic mutations were detected in the CYP2R1 gene. However, this does not completely rule out vitamin D metabolism disorders, as other genetic or acquired conditions may be present. Further evaluation may be recommended.
Variant of Uncertain Significance (VUS)
If a genetic variant of uncertain significance is identified, our genetic counselors will provide detailed guidance regarding its potential implications and recommend appropriate follow-up testing or monitoring.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art facilities ensure accurate and reliable genetic testing with comprehensive genetic counseling support.
Take Control of Your Genetic Health Today
Don’t let uncertainty about vitamin D metabolism disorders affect your quality of life. Our CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B NGS Genetic DNA Test provides the clarity you need for proper diagnosis and treatment. With our discounted price of $500 USD and comprehensive genetic counseling services, you can make informed decisions about your health and future.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
