CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test
Comprehensive Genetic Analysis 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 plays a critical role in cellular function and development. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate detection of genetic variants associated with Bardet-Biedl syndrome type 14, a rare autosomal recessive disorder affecting multiple organ systems.
What Does This Test Measure?
This advanced genetic test specifically targets the CEP290 gene, which encodes the centrosomal protein 290. The test detects:
- Pathogenic mutations in the CEP290 gene sequence
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations (CNVs) affecting the CEP290 gene
- Compound heterozygous mutations that may cause Bardet-Biedl syndrome type 14
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms suggestive of Bardet-Biedl syndrome or related ciliopathies, including:
- Children with progressive vision loss or retinal dystrophy
- Individuals with renal abnormalities or kidney dysfunction
- Patients with obesity, polydactyly, or developmental delays
- Those with endocrine disorders or hypogonadism
- Individuals with a family history of Bardet-Biedl syndrome
- Couples planning pregnancy with known family history of genetic disorders
- Patients with unexplained multi-system involvement
Clinical Benefits of Genetic Testing
Undergoing the CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirm or rule out Bardet-Biedl syndrome type 14 with high precision
- Personalized Treatment: Enable targeted management strategies for affected organ systems
- Family Planning: Provide crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitate proactive monitoring and management of potential complications
- Research Contribution: Contribute to the growing understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and medical geneticists. The report will include:
- Positive Result: Indicates the presence of pathogenic mutations in the CEP290 gene, confirming Bardet-Biedl syndrome type 14 diagnosis
- Negative Result: Suggests no detectable mutations in the CEP290 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Name | Regular Price | Discount Price |
|---|---|---|
| CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services 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 state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our experienced genetic counselors are available to discuss your testing options and provide personalized guidance. Contact us today to schedule your CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test and take control of your genetic health.
Call or WhatsApp us at +1(267) 388-9828 to book your appointment or learn more about our comprehensive genetic testing services.
