RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Carpenter Syndrome
The RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RAB23 gene, which are responsible for Carpenter syndrome. This rare autosomal recessive disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced testing methodology provides families and healthcare providers with definitive genetic information essential for informed medical decisions.
What Does This Test Measure?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the RAB23 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the RAB23 gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Variants associated with autosomal recessive inheritance patterns
- Genetic changes impacting craniofacial development and limb formation
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of Carpenter syndrome, including:
- Infants and children with craniosynostosis (premature fusion of skull sutures)
- Individuals with syndactyly (fused fingers or toes) and polydactyly
- Patients exhibiting characteristic facial features including down-slanting palpebral fissures
- Children with obesity, intellectual disability, or developmental delays
- Individuals with a family history of Carpenter syndrome or consanguineous parents
- Patients undergoing differential diagnosis for acrocephalopolysyndactyly disorders
Clinical Benefits of Genetic Testing
Undergoing the RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Carpenter syndrome with high accuracy
- Treatment Planning: Guides surgical interventions for craniosynostosis and limb abnormalities
- Genetic Counseling: Provides families with recurrence risk information and inheritance patterns
- Early Intervention: Enables timely management of associated health complications
- Family Planning: Assists in reproductive decision-making for affected families
Understanding Your Test Results
Our comprehensive genetic testing provides detailed results with expert interpretation:
- Positive Result: Identifies pathogenic variants in the RAB23 gene, confirming Carpenter syndrome diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated RAB23 gene
All results include detailed explanations and recommendations for follow-up care with our genetic counseling team.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We provide 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, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Schedule Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our expert genetic counselors are available to discuss your testing needs and provide comprehensive support throughout the testing process. Contact us today to schedule your appointment or learn more about our genetic testing services.
Call or WhatsApp: +1(267) 388-9828 to book your RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test and receive professional genetic counseling guidance.
