CYP27B1 Gene Rickets Vitamin D Dependent Type 1 NGS Genetic DNA Test
Comprehensive Introduction to CYP27B1 Genetic Testing
The CYP27B1 Gene Rickets Vitamin D Dependent Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic bone disorders. This advanced test specifically targets mutations in the CYP27B1 gene, which plays a critical role in vitamin D metabolism and bone health. Vitamin D dependent rickets type 1 is an autosomal recessive disorder characterized by the body’s inability to properly activate vitamin D, leading to severe bone mineralization defects and related complications.
Understanding the genetic basis of this condition is essential for accurate diagnosis, as symptoms often overlap with other forms of rickets and bone disorders. The importance of this test extends beyond mere diagnosis—it provides crucial information for treatment planning, genetic counseling, and family planning decisions. With our specialized NGS technology, we can detect even the most subtle genetic variations that might be missed by conventional testing methods.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically analyzes the CYP27B1 gene for pathogenic variants that cause vitamin D dependent rickets type 1. The test detects:
- Point mutations, insertions, and deletions in the CYP27B1 gene
- Missense, nonsense, and frameshift mutations affecting the 1α-hydroxylase enzyme
- Genetic variants that impair the conversion of 25-hydroxyvitamin D to active 1,25-dihydroxyvitamin D
- Autosomal recessive inheritance patterns through comprehensive gene sequencing
- Both known pathogenic variants and novel mutations using advanced bioinformatics analysis
Who Should Consider This Genetic Test
This test is particularly recommended for individuals displaying symptoms consistent with vitamin D dependent rickets type 1, including:
Clinical Symptoms and Indications
- Infants and children with progressive bone deformities including bowed legs, knock knees, or rachitic rosary
- Individuals experiencing muscle weakness, pain, or hypotonia despite adequate nutritional intake
- Patients with delayed growth, short stature, or failure to thrive
- Those presenting with dental abnormalities such as enamel hypoplasia or delayed tooth eruption
- Individuals with hypocalcemia, hypophosphatemia, or elevated alkaline phosphatase levels
- Patients who do not respond to conventional vitamin D supplementation
- Family members of individuals diagnosed with CYP27B1-related disorders
Significant Benefits of Genetic Testing
Undergoing the CYP27B1 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Differentiates vitamin D dependent rickets type 1 from other forms of rickets and bone disorders
- Personalized Treatment: Enables targeted therapy with calcitriol (active vitamin D) rather than conventional vitamin D supplements
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Early Intervention: Allows for prompt treatment initiation to prevent long-term complications
- Comprehensive Care: Facilitates multidisciplinary management involving genetics, endocrinology, and orthopedics
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic testing provides detailed results with clear interpretation:
Positive Results
A positive result indicates the presence of pathogenic mutations in both copies of the CYP27B1 gene, confirming the diagnosis of vitamin D dependent rickets type 1. This result enables immediate initiation of appropriate treatment with active vitamin D metabolites and calcium supplementation.
Negative Results
A negative result suggests that no pathogenic variants were detected in the CYP27B1 gene. However, this does not completely rule out the possibility of vitamin D dependent rickets, as rare mutations or variants in regulatory regions may not be detected. Further clinical evaluation may be necessary.
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain clinical significance may be identified. These require additional family studies and clinical correlation for proper interpretation. Our genetic counselors provide comprehensive guidance for these scenarios.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Genetics, Dermatology, Endocrinology
- Department: Genetic Testing Laboratory
Pre-Test Requirements and Preparation
To ensure the most accurate results, we require:
- Complete clinical history of the patient including symptoms, previous treatments, and family history
- A genetic counseling session to create a detailed pedigree chart of family members affected by or at risk for CYP27B1-related disorders
- Informed consent for genetic testing and result disclosure
- Insurance information and physician referral when 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 laboratories ensures consistent, high-quality testing regardless of your location.
Take Action Today – Book Your Test
Don’t let uncertainty about bone health and vitamin D metabolism affect your quality of life. Our CYP27B1 genetic test provides the clarity needed for proper diagnosis and treatment. With our discounted price of only $500 USD (regularly $700), this comprehensive testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our experienced genetic counselors are available to answer your questions and guide you through the testing process. Take the first step toward understanding your genetic health and receiving the personalized care you deserve.
Early genetic testing can make a significant difference in managing vitamin D dependent rickets type 1 effectively. Contact us now to begin your journey toward better bone health and improved quality of life.
