VDR Gene Rickets Vitamin D-Resistant Type 2A NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hereditary Rickets
The VDR Gene Rickets Vitamin D-Resistant Type 2A NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for bone metabolism disorders. This advanced test utilizes next-generation sequencing technology to analyze the Vitamin D Receptor (VDR) gene, which plays a critical role in vitamin D metabolism and bone health. When mutations occur in this gene, individuals develop hereditary vitamin D-resistant rickets type 2A, a condition where the body cannot properly respond to vitamin D despite adequate levels.
What This Test Measures and Detects
This comprehensive genetic test specifically targets and sequences the entire VDR gene to identify pathogenic variants responsible for vitamin D-resistant rickets type 2A. The test detects:
- Point mutations in the VDR gene coding regions
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Splice site variants that disrupt normal protein production
- Regulatory region mutations affecting gene expression
The VDR gene encodes the vitamin D receptor protein, which is essential for vitamin D to exert its biological effects on calcium and phosphate metabolism. Mutations in this gene lead to impaired vitamin D signaling, resulting in the characteristic symptoms of rickets despite normal or elevated vitamin D levels.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms of rickets that do not respond to standard vitamin D supplementation, including:
- Children with bone deformities, bowed legs, or knock knees
- Individuals experiencing delayed growth and short stature
- Patients with dental abnormalities and enamel defects
- Those with muscle weakness and bone pain
- Individuals with hypocalcemia (low blood calcium) unresponsive to vitamin D therapy
- Patients with family history of vitamin D-resistant rickets
- Infants with craniotabes (soft skull bones) and delayed fontanelle closure
- Individuals with radiographic evidence of rickets despite normal vitamin D levels
Clinical Benefits of Genetic Testing
Undergoing the VDR Gene Rickets Vitamin D-Resistant Type 2A NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms hereditary vitamin D-resistant rickets type 2A, distinguishing it from other forms of rickets
- Personalized Treatment: Guides appropriate therapeutic interventions, including high-dose calcium and active vitamin D metabolites
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Early Intervention: Enables proactive management to prevent severe bone deformities and growth complications
- Disease Monitoring: Helps track treatment response and adjust therapy as needed
- Genetic Risk Assessment: Identifies carriers and assesses recurrence risk in family members
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Identification of pathogenic VDR gene mutation confirms hereditary vitamin D-resistant rickets type 2A diagnosis
- Negative Result: No disease-causing mutations detected, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of the mutated gene
All positive results include detailed interpretation and recommendations for management, including referral to appropriate specialists for comprehensive care.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| VDR Gene Rickets Vitamin D-Resistant Type 2A NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 state-of-the-art laboratories ensure accurate and reliable results with a turnaround time of 3 to 4 weeks.
Sample Collection and Preparation
This test requires one of the following sample types:
- Blood sample collected by our certified phlebotomists
- Extracted DNA from qualified laboratories
- One drop of blood on FTA card for convenient at-home collection
Pre-test Requirements: Please provide complete clinical history and participate in a genetic counseling session to create a detailed family pedigree chart documenting relatives affected by vitamin D-resistant rickets.
Take Control of Your Bone Health Today
Don’t let unexplained bone symptoms affect your quality of life. Our comprehensive VDR Gene Rickets Vitamin D-Resistant Type 2A NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment. Early detection can prevent serious complications and improve long-term outcomes.
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.
Our team of genetic specialists, dermatologists, and bone health experts are ready to provide you with personalized care and comprehensive support throughout your testing journey. Book your appointment now and benefit from our current promotional pricing of only $500 for this advanced genetic analysis.
