CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for CHARGE Syndrome
The CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for identifying genetic mutations associated with CHARGE syndrome. This complex congenital disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced Next-Generation Sequencing (NGS) technology provides comprehensive analysis of the CHD7 gene, delivering reliable results that guide clinical decision-making and family planning.
What Does This Test Measure?
This specialized genetic test specifically targets the CHD7 gene located on chromosome 8q12.1, which encodes the chromodomain helicase DNA-binding protein 7. The test detects:
- Point mutations and small insertions/deletions in the CHD7 gene
- Pathogenic variants associated with CHARGE syndrome
- Novel mutations that may contribute to the disorder
- Genetic variations affecting protein function and structure
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with characteristic features of CHARGE syndrome, including:
- Newborns and infants with coloboma (eye abnormalities)
- Children with heart defects, particularly tetralogy of Fallot
- Patients with choanal atresia (nasal passage blockage)
- Individuals with growth retardation and developmental delays
- Those with ear abnormalities and hearing loss
- Patients with cranial nerve dysfunction
- Individuals with genital abnormalities
Clinical Benefits of CHD7 Genetic Testing
Undergoing CHD7 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms CHARGE syndrome with 99% accuracy
- Early Intervention: Enables timely medical management and treatment
- Family Planning: Provides crucial information for genetic counseling
- Personalized Care: Guides specialized treatment approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of CHARGE syndrome
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your CHD7 gene analysis:
- Positive Result: Indicates a pathogenic mutation in the CHD7 gene, confirming CHARGE syndrome diagnosis
- Negative Result: No mutation detected, though clinical evaluation remains important
- Variant of Uncertain Significance: Requires additional clinical correlation
- Carrier Status: Information for family members and reproductive planning
All results include detailed explanations and recommendations for follow-up care with genetic specialists.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Pediatric Genetics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
Pre-Test Requirements
Before scheduling your CHD7 genetic test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with CHARGE syndrome features
- Review of previous medical evaluations and test results
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with branches in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of location.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our experienced genetic counselors and medical professionals are ready to assist you through every step of the testing process. Contact us today to schedule your CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test and take the first step toward comprehensive genetic understanding.
Call or WhatsApp: +1(267) 388-9828 to book your test appointment or speak with our genetic specialists. Early diagnosis leads to better outcomes – schedule your genetic testing today!
