ENPP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Bone Disorders
The ENPP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited bone disorders. This specialized genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the ENPP1 gene, which plays a critical role in phosphate metabolism and bone mineralization. Understanding your genetic profile is essential for accurate diagnosis and personalized treatment planning for this complex condition.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) gene, which encodes an enzyme crucial for regulating extracellular pyrophosphate levels. The test detects:
- Pathogenic variants and mutations in the ENPP1 gene
- Autosomal recessive inheritance patterns
- Specific genetic alterations causing hypophosphatemic rickets type 2
- Variants affecting phosphate homeostasis and bone mineralization
- Mutations that disrupt normal skeletal development
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of ENPP1-related disorders:
- Children or adults with unexplained bone pain and skeletal deformities
- Patients diagnosed with hypophosphatemic rickets without clear cause
- Individuals with family history of inherited bone disorders
- Patients showing resistance to conventional vitamin D therapy
- Those experiencing growth retardation and dental abnormalities
- Individuals with early-onset osteoarthritis or calcification issues
- Patients with generalized arterial calcification of infancy (GACI)
Key Benefits of ENPP1 Genetic Testing
- Accurate Diagnosis: Provides definitive identification of ENPP1 gene mutations
- Personalized Treatment: Enables targeted therapeutic approaches
- Family Planning: Offers crucial information for genetic counseling
- Early Intervention: Facilitates proactive management of symptoms
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough evaluation
- Clinical Guidance: Supports development of individualized care plans
Understanding Your Test Results
Your genetic test results will provide detailed information about ENPP1 gene status:
- Positive Result: Indicates presence of pathogenic mutations confirming diagnosis
- Negative Result: Suggests absence of detectable ENPP1 mutations
- Variant of Uncertain Significance: Requires further clinical correlation
- Carrier Status: Identifies individuals with single mutation copies
Our genetic counselors will help interpret your results and provide guidance on next steps for management and treatment.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| ENPP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 2 NGS Genetic DNA Test | $700 |
| Discounted Price | $500 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure accurate testing and comprehensive support throughout your diagnostic journey.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your bone health condition delay proper diagnosis and treatment. Our ENPP1 genetic test provides the clarity needed to make informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your ENPP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 2 NGS Genetic DNA Test. Our expert team is ready to guide you through every step of the process and help you understand your genetic health.
