CRB2 Gene Ventriculomegaly with Cystic Kidney Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological-Renal Disorder
The CRB2 Gene Ventriculomegaly with Cystic Kidney Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CRB2 (Crumbs homolog 2) gene, which plays a critical role in embryonic development and tissue organization. This specialized genetic examination provides definitive answers for patients and families affected by this rare autosomal recessive condition that simultaneously impacts neurological and renal systems.
What Does This Test Measure and Detect?
Our advanced NGS technology specifically targets and sequences the CRB2 gene to identify pathogenic variants responsible for ventriculomegaly with cystic kidney disease. The test detects:
- Point mutations, insertions, and deletions in the CRB2 gene
- Autosomal recessive inheritance patterns
- Specific genetic markers associated with brain ventricle enlargement
- Mutations linked to renal cyst formation and kidney dysfunction
- Carrier status for family planning purposes
Who Should Consider This Genetic Test?
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Prenatal ultrasound findings of ventriculomegaly
- Newborns or children with enlarged brain ventricles
- Patients with cystic kidney disease of unknown origin
- Family history of neurological and renal disorders
- Unexplained developmental delays with kidney abnormalities
- Couples with previous affected pregnancies
- Individuals from consanguineous families
Clinical Symptoms and Indications
Patients may exhibit various clinical manifestations including:
- Macrocephaly or abnormal head growth
- Developmental delays and neurological impairment
- Progressive kidney dysfunction
- Hypertension related to renal involvement
- Motor coordination difficulties
- Cognitive challenges
- Growth retardation
Benefits of CRB2 Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out CRB2-related disorder with high accuracy
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Early Intervention: Facilitates timely management of neurological and renal complications
- Personalized Care: Guides targeted treatment approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your CRB2 gene analysis:
- Positive Result: Identifies pathogenic mutations confirming diagnosis, enabling proactive management
- Negative Result: Suggests alternative causes for symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | CRB2 Gene Ventriculomegaly with Cystic Kidney Disease 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 |
| Specialty | Neurological Genetics |
Pre-Test Requirements
Before scheduling your CRB2 genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Review of insurance coverage and payment options
Nationwide Accessibility
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients nationwide.
Take Control of Your Genetic Health
Early genetic diagnosis of CRB2-related disorders can significantly impact treatment outcomes and quality of life. Our specialized neurological genetics team provides expert interpretation and comprehensive support throughout the testing process.
Ready to schedule your CRB2 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care management.
