ASXL1 Gene Bohring-Opitz Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The ASXL1 Gene Bohring-Opitz Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics, specifically designed to identify mutations in the ASXL1 gene that cause Bohring-Opitz syndrome. This rare genetic disorder affects multiple body systems and presents with distinctive clinical features that often require specialized medical management.
What Does This Test Measure?
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the ASXL1 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the ASXL1 gene
- Novel genetic variants associated with Bohring-Opitz syndrome
- Known pathogenic mutations documented in medical literature
- De novo mutations that occur spontaneously
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms and clinical features:
- Severe developmental delays and intellectual disabilities
- Characteristic facial features including prominent eyes, wide nasal bridge, and micrognathia
- Feeding difficulties and failure to thrive in infancy
- Hypotonia (low muscle tone) and joint contractures
- Growth abnormalities and short stature
- Seizures or neurological abnormalities
- Family history suggestive of genetic disorders
Key Benefits of Genetic Testing
Undergoing the ASXL1 Gene Bohring-Opitz Syndrome NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Bohring-Opitz syndrome with high precision
- Personalized Care: Enables targeted medical management and intervention strategies
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates timely access to specialized therapies and support services
- Research Contribution: Helps advance scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic ASXL1 mutation, confirming Bohring-Opitz syndrome diagnosis
- Negative Result: Suggests that ASXL1 mutations are not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Provides information about inheritance patterns and recurrence risks
Test Details and Pricing
| Test Information | Details |
|---|---|
| Test Name | ASXL1 Gene Bohring-Opitz Syndrome 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 |
| Specialty | Pediatrics |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Dysmorphology |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Recent medical evaluations and diagnostic reports
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions delay proper care and management. Our ASXL1 Gene Bohring-Opitz Syndrome NGS Genetic DNA Test provides the definitive answers you need to make informed healthcare decisions for your child or family member.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
