OCRL Gene Dent Disease Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurological and Kidney Disorders
The OCRL Gene Dent Disease Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the OCRL (oculocerebrorenal syndrome of Lowe) gene, which is responsible for Dent disease type 2. This rare X-linked genetic disorder primarily affects kidney function but also involves significant neurological manifestations, making accurate genetic diagnosis essential for proper patient management and family counseling.
What This Advanced Genetic Test Detects
Our Next Generation Sequencing (NGS) technology provides comprehensive analysis of the OCRL gene to identify pathogenic variants associated with Dent disease type 2. The test specifically detects:
- Point mutations, insertions, and deletions in the OCRL gene
- Genetic variants affecting phosphatidylinositol metabolism
- Mutations leading to impaired kidney tubular function
- Genetic abnormalities causing combined renal and neurological symptoms
- X-linked inheritance patterns characteristic of Dent disease type 2
Who Should Consider This Genetic Screening
This specialized genetic test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Persistent proteinuria (excess protein in urine) without apparent cause
- Recurrent kidney stones or nephrocalcinosis
- Progressive renal failure in childhood or early adulthood
- Family history of X-linked kidney disorders
- Neurological symptoms including developmental delay, intellectual disability, or hypotonia
- Cataracts or other ocular abnormalities in combination with renal issues
- Unexplained Fanconi syndrome symptoms (aminoaciduria, glycosuria, phosphaturia)
Significant Benefits of Genetic Testing
Undergoing the OCRL Gene Dent Disease Type 2 NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out Dent disease type 2 with high accuracy
- Personalized Treatment: Enables targeted management strategies for kidney protection
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive monitoring and prevention of complications
- Comprehensive Care: Supports coordinated management between nephrologists and neurologists
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your OCRL gene analysis results:
- Positive Result: Indicates the presence of a pathogenic mutation in the OCRL gene, confirming Dent disease type 2 diagnosis
- Negative Result: Suggests absence of known OCRL gene mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines inheritance risk for family members
All positive results include detailed guidance on clinical management, monitoring recommendations, and genetic counseling referrals. Our team ensures you understand the implications of your genetic findings for both current health and future planning.
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
Nationwide Testing Availability
We have conveniently located branches 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 genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health
Don’t let uncertainty about genetic conditions affect your health decisions. The OCRL Gene Dent Disease Type 2 NGS Genetic DNA Test provides the clarity needed for informed medical choices and proactive health management. Our experienced genetic counselors are available to discuss your testing options and answer any questions.
Book your appointment today by calling +1(267) 388-9828 or schedule online through our secure patient portal. Take the first step toward definitive diagnosis and personalized care for neurological and kidney health concerns.
Note: Pre-test requirements include providing clinical history and participating in a genetic counseling session to create a detailed family pedigree chart documenting relatives affected by OCRL Gene Dent disease type 2 symptoms.
