FGF23 Gene Hypophosphatemic Rickets Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bone Mineralization Disorders
The FGF23 Gene Hypophosphatemic Rickets Autosomal Dominant NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited bone disorders. This advanced test specifically targets mutations in the Fibroblast Growth Factor 23 (FGF23) gene, which plays a critical role in phosphate homeostasis and bone mineralization. When FGF23 gene mutations occur, they disrupt normal phosphate regulation, leading to the development of autosomal dominant hypophosphatemic rickets (ADHR) – a rare inherited condition characterized by impaired bone mineralization and skeletal abnormalities.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test provides detailed analysis of the FGF23 gene to identify pathogenic variants responsible for autosomal dominant hypophosphatemic rickets. The test specifically detects:
- Point mutations in the FGF23 gene coding regions
- Small insertions and deletions affecting gene function
- Missense mutations that alter protein structure
- Genetic variants affecting phosphate-regulating mechanisms
- Inheritance patterns confirming autosomal dominant transmission
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing comprehensive coverage of the entire FGF23 gene with exceptional accuracy and sensitivity exceeding 99%.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of hypophosphatemic rickets or those with a family history of bone mineralization disorders. Key indications include:
- Children or adults with unexplained bone pain and tenderness
- Individuals exhibiting skeletal deformities such as bowed legs or knock knees
- Patients with dental abnormalities including enamel defects and frequent abscesses
- Children showing growth retardation or short stature
- Individuals with laboratory findings of hypophosphatemia (low blood phosphate)
- Elevated alkaline phosphatase levels without liver disease
- Family history of similar bone disorders across multiple generations
- Unexplained muscle weakness or fatigue
Clinical Benefits of Genetic Testing
Undergoing the FGF23 Gene Hypophosphatemic Rickets Autosomal Dominant NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms genetic cause of symptoms, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches including phosphate supplements and active vitamin D analogs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely treatment to prevent progressive skeletal deformities
- Disease Monitoring: Establishes baseline for ongoing management and treatment response assessment
- Risk Assessment: Identifies at-risk family members for proactive monitoring
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information to guide your healthcare decisions:
- Positive Result: Indicates the presence of a pathogenic FGF23 gene mutation. This confirms the diagnosis of autosomal dominant hypophosphatemic rickets and enables targeted treatment planning with your healthcare provider.
- Negative Result: Suggests that no disease-causing mutations were detected in the FGF23 gene. However, clinical correlation with symptoms and other laboratory findings is essential, as other genetic or acquired forms of hypophosphatemia may be present.
- Variant of Uncertain Significance (VUS): Some genetic changes may have unclear clinical implications. In such cases, additional family studies or periodic re-evaluation may be recommended.
All results are accompanied by detailed interpretation and recommendations from our board-certified genetic specialists. We strongly recommend discussing your results with a genetic counselor or metabolic bone disease specialist to develop an appropriate management plan.
Test Pricing and Availability
| 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
Pre-Test Requirements
To ensure optimal testing accuracy and clinical relevance, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Insurance information if applicable
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 collection centers ensures accessible testing regardless of your location.
Take Control of Your Bone Health Today
Don’t let unexplained bone symptoms or family history of skeletal disorders remain undiagnosed. The FGF23 Gene Hypophosphatemic Rickets Autosomal Dominant NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and targeted treatment. Our experienced genetic specialists are available to guide you through the testing process and help interpret your results.
Ready to schedule your genetic test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and developing an effective treatment strategy.
