CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Inherited Disorders
The CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CEP290 gene, which are responsible for Bardet-Biedl syndrome type 14. This rare autosomal recessive disorder affects multiple organ systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced next-generation sequencing technology provides comprehensive analysis of the CEP290 gene, enabling healthcare providers to make informed decisions about patient care and genetic counseling.
What Does the CEP290 Gene Test Measure?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the CEP290 gene for pathogenic variants associated with Bardet-Biedl syndrome type 14. The test specifically detects:
- Point mutations and small insertions/deletions in the CEP290 gene
- Pathogenic variants affecting ciliary function and protein structure
- Autosomal recessive inheritance patterns
- Genetic markers associated with retinal degeneration and multi-system involvement
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of Bardet-Biedl syndrome type 14, including:
- Vision Problems: Progressive vision loss, retinal dystrophy, night blindness, or legal blindness in childhood
- Developmental Concerns: Intellectual disability, learning difficulties, or developmental delays
- Physical Characteristics: Obesity, polydactyly (extra fingers or toes), or hypogonadism
- Renal Abnormalities: Kidney dysfunction, structural kidney defects, or renal failure
- Family History: Known family history of Bardet-Biedl syndrome or consanguineous parents
- Undiagnosed Syndromes: Patients with multiple system involvement without clear diagnosis
Benefits of CEP290 Genetic Testing
Undergoing genetic testing for CEP290 mutations provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out Bardet-Biedl syndrome type 14 with high precision
- Personalized Treatment: Enables targeted management strategies for specific symptoms
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates proactive management of potential complications
- Research Participation: May qualify patients for clinical trials and emerging therapies
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories, each with specific implications:
- Positive Result: Identifies pathogenic mutations in both copies of the CEP290 gene, confirming Bardet-Biedl syndrome type 14 diagnosis
- Carrier Status: Identifies a single pathogenic mutation, indicating carrier status without disease manifestation
- Negative Result: No pathogenic mutations detected, significantly reducing likelihood of CEP290-related Bardet-Biedl syndrome
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical significance requiring further evaluation
All results are accompanied by detailed interpretation from our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | CEP290 Gene Bardet-Biedl Syndrome Type 14 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 | Ophthalmology Genetics |
Pre-Test Requirements and Preparation
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
Nationwide Testing Availability
We have testing facilities and collection centers 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 network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you can access world-class diagnostic services without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take the first step toward understanding your genetic health and securing your family’s future.
