OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for a Rare Neurological Disorder
The OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals and families affected by this rare genetic condition. Lowe syndrome, also known as oculocerebrorenal syndrome, is an X-linked recessive disorder that primarily affects males and involves multiple organ systems including the eyes, central nervous system, and kidneys. Our advanced genetic testing provides definitive answers for families seeking clarity about this complex condition.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the OCRL (OculoCerebroRenal syndrome of Lowe) gene located on the X chromosome. Using cutting-edge Next-Generation Sequencing technology, our test identifies:
- Pathogenic mutations in the OCRL gene responsible for Lowe syndrome
- Various types of genetic variants including missense, nonsense, frameshift, and splice-site mutations
- Deletions and duplications within the OCRL gene region
- Carrier status in female relatives of affected individuals
- Genetic markers that help predict disease severity and progression
Who Should Consider This Genetic Test?
This comprehensive genetic evaluation is recommended for individuals presenting with symptoms suggestive of Lowe syndrome or those with a family history of the condition. Key indications include:
- Male infants with congenital cataracts and glaucoma
- Children exhibiting developmental delays and intellectual disability
- Individuals with renal tubular dysfunction and proteinuria
- Patients with characteristic facial features including frontal bossing and deep-set eyes
- Families with a history of X-linked neurological disorders
- Female relatives of affected males seeking carrier status information
- Couples with family history planning pregnancy
Clinical Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis through our OCRL gene testing provides numerous clinical advantages:
- Early Intervention: Enables prompt initiation of targeted therapies and supportive care
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Management: Guides development of individualized treatment plans for ocular, neurological, and renal complications
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances scientific understanding of rare genetic disorders
- Psychological Relief: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information to guide your healthcare decisions:
- Positive Result: Confirms diagnosis of Lowe syndrome and enables targeted management strategies
- Negative Result: Rules out OCRL gene mutations as the cause of symptoms
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation
- Carrier Status: Provides important information for female relatives regarding inheritance risk
All results are accompanied by detailed interpretation from our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or a simple blood spot on FTA card, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate genetic specialists are ready to guide you through every step of the testing process.
Remember to bring your clinical history and be prepared for a comprehensive genetic counseling session that includes creating a detailed family pedigree chart to better understand your genetic inheritance patterns.
