CYP27B1 Gene Rickets Vitamin D Dependent Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Vitamin D Metabolism Disorders
The CYP27B1 Gene Rickets Vitamin D Dependent Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited metabolic bone disorders. This advanced genetic screening specifically targets mutations in the CYP27B1 gene, which encodes the enzyme 25-hydroxyvitamin D-1-alpha-hydroxylase. This enzyme plays a crucial role in converting vitamin D to its biologically active form, calcitriol, essential for proper calcium and phosphate metabolism.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test analyzes the entire coding region of the CYP27B1 gene to identify:
- Point mutations affecting enzyme function
- Frameshift mutations disrupting protein structure
- Nonsense mutations leading to premature stop codons
- Missense mutations altering amino acid sequences
- Small insertions and deletions affecting gene expression
The test utilizes next-generation sequencing technology, providing unparalleled accuracy in detecting even rare genetic variants that conventional methods might miss. This comprehensive approach ensures thorough evaluation of all potential mutation sites within the CYP27B1 gene.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Early-onset rickets symptoms in infancy or childhood
- Persistent hypocalcemia despite adequate vitamin D intake
- Elevated alkaline phosphatase levels
- Bone deformities including bowlegs, knock-knees, or rachitic rosary
- Delayed motor development and growth retardation
- Muscle weakness and dental enamel defects
- Family history of vitamin D resistant rickets
- Unresponsive to conventional vitamin D therapy
Clinical Benefits of Early Genetic Diagnosis
Early detection through genetic testing provides numerous clinical advantages:
- Precise Diagnosis: Differentiates vitamin D dependent rickets type 1 from other forms of rickets and bone disorders
- Targeted Treatment: Enables specific therapeutic interventions with active vitamin D metabolites
- Family Planning: Provides crucial information for genetic counseling and family planning decisions
- Prevention of Complications: Early intervention prevents progressive bone deformities and growth impairment
- Personalized Monitoring: Allows for tailored follow-up and monitoring protocols
- Improved Quality of Life: Proper management reduces pain and improves mobility
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the CYP27B1 gene, confirming vitamin D dependent rickets type 1 diagnosis
- Negative Result: Suggests absence of detectable mutations in the CYP27B1 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene, important for family planning
All results include detailed clinical interpretation and recommendations for management. Our genetic counselors are available to discuss results and provide guidance on next steps.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | CYP27B1 Gene Rickets Vitamin D Dependent Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
| Specialty | General Physician, Genetics |
| Disease Category | Metabolic Disorders |
Pre-Test Requirements and Genetic Counseling
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss implications and expectations
- Development of detailed family pedigree chart
- Discussion of potential outcomes and their meanings
- Informed consent process explaining benefits and limitations
Nationwide Accessibility and Convenience
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 collection centers ensures easy access to testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about vitamin D metabolism disorders affect your health or your family’s future. Our CYP27B1 genetic test provides definitive answers that can guide effective treatment strategies and improve long-term outcomes. With our discounted price of $500 USD and comprehensive genetic analysis, you’re investing in precise diagnostic information that can transform clinical management.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
