OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Lowe Syndrome
The OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited disorders. This advanced testing methodology provides definitive identification of mutations in the OCRL (oculocerebrorenal syndrome of Lowe) gene, which is crucial for accurate diagnosis and management of Lowe syndrome—a complex X-linked genetic condition affecting multiple organ systems.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the OCRL gene located on the X chromosome, utilizing cutting-edge Next-Generation Sequencing (NGS) technology to:
- Identify pathogenic variants and mutations in the OCRL gene
- Detect single nucleotide polymorphisms (SNPs) associated with Lowe syndrome
- Analyze gene deletions, insertions, and complex rearrangements
- Provide comprehensive coverage of all coding regions and splice sites
- Offer high-resolution detection of both inherited and de novo mutations
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with characteristic features of Lowe syndrome or those with a family history of the condition:
- Infants with congenital cataracts or severe vision impairment
- Children exhibiting developmental delays and intellectual disability
- Patients with renal tubular dysfunction and Fanconi syndrome symptoms
- Individuals with unexplained metabolic acidosis or electrolyte imbalances
- Males with characteristic facial features and growth retardation
- Family members of individuals diagnosed with Lowe syndrome
- Prenatal testing for at-risk pregnancies with family history
Benefits of OCRL Genetic Testing
Early and accurate genetic diagnosis through this test provides numerous clinical advantages:
- Early Intervention: Enables proactive management of renal complications before irreversible damage occurs
- Personalized Treatment: Guides targeted therapeutic approaches for specific manifestations
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Improved Outcomes: Facilitates multidisciplinary care coordination among nephrologists, ophthalmologists, and neurologists
- Carrier Detection: Identifies female carriers who may pass the mutation to their offspring
- Differential Diagnosis: Helps distinguish Lowe syndrome from other conditions with similar presentations
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of a pathogenic mutation in the OCRL gene, confirming the diagnosis of Lowe syndrome
- Negative Result: Suggests that no disease-causing mutations were detected in the OCRL gene
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown
- Carrier Status: For female testing, determines whether an individual carries one copy of the mutated gene
All positive results are confirmed through Sanger sequencing, and comprehensive genetic counseling is provided to help you understand the implications of your results for your health and family planning decisions.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Pre-Test Requirements
To ensure the most accurate and comprehensive genetic analysis, we require:
- Complete clinical history of the patient undergoing testing
- Mandatory genetic counseling session before testing
- Detailed pedigree chart documenting family members affected by OCRL-related conditions
- Informed consent for genetic testing and result disclosure
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your health decisions. Our OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test provides the clarity and confidence you need for informed medical management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
