CCDC28B Gene Bardet-Biedl Syndrome Modifier NGS Genetic DNA Test
Comprehensive Genetic Analysis for Complex Disorders
The CCDC28B Gene Bardet-Biedl Syndrome Modifier NGS Genetic DNA Test represents a cutting-edge approach to diagnosing complex genetic conditions that affect multiple organ systems. This specialized test focuses on the CCDC28B gene, which plays a crucial role as a modifier in Bardet-Biedl syndrome – a rare genetic disorder characterized by progressive vision loss, kidney abnormalities, obesity, and developmental challenges.
What This Advanced Genetic Test Measures
Our NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the CCDC28B gene to detect:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Complex genetic rearrangements
- Modifier effects on Bardet-Biedl syndrome presentation
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing symptoms across multiple organ systems, including:
Vision-Related Symptoms
- Progressive vision loss beginning in childhood
- Retinal dystrophy or rod-cone dystrophy
- Night blindness and photophobia
- Visual field constriction
Renal and Hepatic Concerns
- Kidney abnormalities or renal dysfunction
- Hepatic involvement or liver complications
- Structural kidney malformations
- Progressive renal failure
Endocrine and Developmental Issues
- Early-onset obesity
- Growth abnormalities
- Hormonal imbalances
- Developmental delays
- Learning disabilities
Significant Benefits of Genetic Testing
Undergoing the CCDC28B genetic test provides numerous advantages for patients and families:
Accurate Diagnosis and Prognosis
Receive definitive genetic confirmation of Bardet-Biedl syndrome and understand how CCDC28B modifications affect disease severity and progression.
Personalized Treatment Planning
Genetic results enable healthcare providers to develop targeted management strategies for vision, kidney, endocrine, and developmental concerns.
Family Planning Guidance
Understand inheritance patterns and recurrence risks for future pregnancies, empowering informed reproductive decisions.
Early Intervention Opportunities
Identify at-risk family members before symptom onset, allowing for proactive monitoring and preventive care.
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
Positive Results
A positive result indicates the presence of CCDC28B gene mutations that modify Bardet-Biedl syndrome expression. This information guides specialized care coordination across multiple medical specialties.
Negative Results
A negative result suggests that CCDC28B mutations are not contributing to your symptoms, allowing physicians to explore alternative diagnostic possibilities.
Variant of Uncertain Significance
Some genetic changes may require additional family studies or research correlation to determine clinical significance.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | CCDC28B Gene Bardet-Biedl Syndrome Modifier NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Rate | $700 |
| Turnaround Time | Comprehensive Analysis | 3-4 Weeks |
| Sample Type | Multiple Options Available | Blood, Extracted DNA, or FTA Card |
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing 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 genetic counselors and healthcare professionals ensures you receive comprehensive support regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your CCDC28B genetic test. Take control of your health journey with definitive genetic information that can transform your medical care and quality of life.
Pre-Test Requirements
Before your test, please provide:
- Complete clinical history relevant to Bardet-Biedl syndrome symptoms
- Participation in genetic counseling to create a detailed family pedigree
- Information about affected family members and their symptoms
Our genetic counseling team will help you prepare all necessary documentation and ensure you’re fully informed about the testing process and potential outcomes.
