CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B NGS Genetic DNA Test
Understanding the CYP2R1 Genetic Test
The CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for metabolic bone disorders. This advanced genetic screening specifically targets mutations in the CYP2R1 gene, which plays a critical role in vitamin D metabolism. The CYP2R1 enzyme is responsible for the initial hydroxylation step that converts vitamin D3 to 25-hydroxyvitamin D, the primary circulating form of vitamin D in the body. When this gene contains pathogenic variants, it disrupts the normal vitamin D activation pathway, leading to severe metabolic consequences.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the CYP2R1 gene to identify:
- Point mutations and single nucleotide variants affecting enzyme function
- Insertions and deletions that disrupt gene expression
- Splice site mutations altering protein structure
- Compound heterozygous or homozygous mutations
- Novel variants with potential clinical significance
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Early-onset rickets with normal calcium levels
- Bone deformities including bowlegs or knock-knees
- Delayed growth and development in children
- Muscle weakness and pain without apparent cause
- Family history of vitamin D-resistant rickets
- Unresponsive to conventional vitamin D supplementation
- Abnormal laboratory findings with low 25-hydroxyvitamin D levels
Clinical Benefits of Genetic Testing
Undergoing the CYP2R1 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of vitamin D metabolism disorders
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt treatment to prevent long-term complications
- Differential Diagnosis: Distinguishes between various forms of hereditary rickets
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your CYP2R1 gene analysis:
- Positive Result: Indicates the presence of pathogenic mutations confirming vitamin D 25-hydroxylation deficiency
- Negative Result: Suggests no detectable mutations in the CYP2R1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about vitamin D metabolism disorders affect your quality of life. Our advanced CYP2R1 genetic testing provides the clarity needed for effective treatment planning and family management. With our discounted pricing and comprehensive analysis, you can make informed decisions about your health journey.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and receiving personalized care tailored to your specific needs.
