ASXL3 Gene Bainbridge-Ropers Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The ASXL3 Gene Bainbridge-Ropers Syndrome NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering families and healthcare providers definitive answers for complex developmental conditions. This advanced genetic analysis utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the ASXL3 gene, which are responsible for Bainbridge-Ropers syndrome—a rare neurodevelopmental disorder characterized by significant developmental delays and distinctive clinical features.
What Does This Test Measure?
This comprehensive genetic test specifically targets and analyzes the ASXL3 gene using sophisticated NGS methodology to detect:
- Pathogenic variants and mutations in the ASXL3 gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the ASXL3 gene region
- Novel genetic alterations associated with Bainbridge-Ropers syndrome
The test provides complete sequencing coverage of the ASXL3 gene, ensuring high sensitivity and specificity for detecting both known and novel mutations that contribute to this complex developmental disorder.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with the following symptoms and clinical features:
- Severe developmental delays in motor skills, speech, and cognitive abilities
- Intellectual disability ranging from moderate to severe
- Feeding difficulties and poor weight gain during infancy
- Distinctive facial features including prominent forehead, deep-set eyes, and thin upper lip
- Hypotonia (low muscle tone) and motor coordination challenges
- Autism spectrum behaviors and social communication difficulties
- Family history of similar developmental concerns or genetic disorders
Key Benefits of ASXL3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Bainbridge-Ropers syndrome
- Personalized Care Planning: Enables targeted interventions and therapies based on genetic findings
- Family Planning Guidance: Offers valuable information for future reproductive decisions
- Early Intervention: Facilitates timely access to appropriate developmental support services
- Medical Management: Guides healthcare providers in managing associated medical complications
- Genetic Counseling: Includes comprehensive pre-test and post-test genetic counseling sessions
Understanding Your Test Results
Your genetic test results will be thoroughly explained during your post-test genetic counseling session. The interpretation includes:
- Positive Result: Identification of a pathogenic ASXL3 mutation confirms the diagnosis of Bainbridge-Ropers syndrome and provides guidance for medical management
- Negative Result: No ASXL3 mutation detected, suggesting other genetic or non-genetic causes for the clinical symptoms
- Variant of Uncertain Significance: Identification of a genetic change with unclear clinical implications, requiring further evaluation and possible family studies
Our genetic counselors will help you understand the implications of your results and provide guidance on next steps for medical care and family planning.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality genetic testing services nationwide.
Take the Next Step Toward Answers
If you or your child are experiencing symptoms suggestive of Bainbridge-Ropers syndrome, don’t wait to get the answers you need. Our comprehensive ASXL3 genetic testing provides the clarity required for proper diagnosis and management. Contact us today to schedule your genetic counseling session and begin the testing process.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or speak with our genetic counseling team.
With a turnaround time of 3-4 weeks and requiring only a simple blood sample or DNA extraction, this test offers a straightforward path to understanding complex developmental conditions and planning appropriate medical care for affected individuals.
