ACTB Gene Baraitser-Winter Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The ACTB Gene Baraitser-Winter Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in precision medicine for families affected by developmental disorders. This advanced diagnostic tool utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify specific mutations in the ACTB gene that cause Baraitser-Winter Syndrome Type 1, a rare genetic condition characterized by distinctive facial features, intellectual disability, and developmental delays.
What Does This Test Measure?
This comprehensive genetic test specifically targets the ACTB gene, which encodes beta-actin, a crucial protein involved in cell structure and movement. The test detects:
- Point mutations in the ACTB gene coding regions
- Small insertions and deletions affecting gene function
- Specific genetic variants associated with Baraitser-Winter Syndrome Type 1
- Pathogenic mutations that disrupt normal cellular processes
Using advanced NGS technology, the test provides high-resolution analysis of the entire ACTB gene, ensuring comprehensive coverage and accurate detection of even rare genetic variants.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Developmental delays in early childhood
- Intellectual disability of unknown origin
- Distinctive facial features including hypertelorism, ptosis, or high-arched palate
- Feeding difficulties in infancy
- Muscle hypotonia (low muscle tone)
- Growth retardation
- Family history of similar developmental concerns
- Unexplained seizures or neurological symptoms
Key Benefits of Genetic Testing
Undergoing the ACTB Gene Baraitser-Winter Syndrome Type 1 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Baraitser-Winter Syndrome Type 1 with high precision
- Personalized Treatment Planning: Enables targeted interventions and therapies
- Genetic Counseling: Provides families with recurrence risk information
- Early Intervention: Facilitates timely support services and educational planning
- Peace of Mind: Reduces diagnostic uncertainty and medical odyssey
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Identifies a pathogenic mutation in the ACTB gene, confirming Baraitser-Winter Syndrome Type 1 diagnosis
- Negative Result: No disease-causing mutations detected in the ACTB gene
- Variant of Uncertain Significance (VUS): Identifies a genetic change whose clinical significance is currently unknown
Our genetic counseling team will provide comprehensive guidance on understanding your results, discussing implications for family members, and developing appropriate management strategies.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | ACTB Gene Baraitser-Winter Syndrome Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session
- Family pedigree chart documenting affected relatives
- Relevant medical records and previous test results
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Answers
If you or your child are experiencing symptoms suggestive of Baraitser-Winter Syndrome Type 1, don’t wait to get the answers you need. Our comprehensive genetic testing provides the clarity required for proper diagnosis and management planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your ACTB Gene Baraitser-Winter Syndrome Type 1 NGS Genetic DNA Test. Our dedicated team is ready to guide you through every step of the testing process and provide the support your family deserves.
Early diagnosis through genetic testing can make a significant difference in treatment outcomes and quality of life. Take control of your health journey with our advanced genetic testing services.
