DMP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Bone Disorders
The DMP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited metabolic bone diseases. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the DMP1 (Dentin Matrix Acidic Phosphoprotein 1) gene, which plays a crucial role in bone mineralization and phosphate homeostasis. Understanding the genetic basis of hypophosphatemic rickets enables healthcare providers to implement targeted treatment strategies and provide accurate genetic counseling for affected families.
What Does This Test Detect?
This comprehensive genetic analysis specifically targets the DMP1 gene located on chromosome 4q21, which encodes a non-collagenous bone matrix protein essential for proper bone mineralization. The test detects:
- Pathogenic variants and mutations in the DMP1 gene
- Autosomal recessive inheritance patterns
- Genetic markers associated with impaired phosphate regulation
- Variants affecting osteoblast and osteocyte function
- Mutations disrupting the bone mineralization process
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of hypophosphatemic rickets, including:
- Children with delayed growth and short stature
- Bone deformities such as bowed legs or knock knees
- Dental abnormalities including enamel defects and spontaneous abscesses
- Muscle weakness and bone pain
- Family history of similar bone disorders
- Radiographic evidence of rickets without nutritional deficiencies
- Persistent hypophosphatemia with normal calcium levels
Significant Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis through this test provides numerous advantages:
- Accurate Diagnosis: Differentiates DMP1-related rickets from other forms of hypophosphatemia
- Personalized Treatment: Enables targeted therapy with phosphate supplements and active vitamin D metabolites
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Allows for timely management to prevent severe bone deformities
- Comprehensive Care: Facilitates multidisciplinary approach involving geneticists, endocrinologists, and orthopedic specialists
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations in the DMP1 gene, confirming the diagnosis of autosomal recessive hypophosphatemic rickets type 1
- Negative Result: No disease-causing variants detected in the DMP1 gene, suggesting other causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy of the DMP1 gene who may pass the condition to offspring
All results include detailed clinical correlations and recommendations for management. Our genetic counselors are available to help you understand your results and discuss next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | DMP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
Nationwide Accessibility
We have conveniently located branches across the United States, making genetic testing accessible to patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your bone health condition persist. Our DMP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 1 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling services, you can make informed decisions about your health and family planning.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our experienced team is ready to guide you through the testing process and help you understand your genetic health.
