ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Developmental Disorders
The ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders. This advanced testing methodology provides definitive answers for individuals and families affected by developmental abnormalities and neurological conditions. By leveraging cutting-edge Next-Generation Sequencing technology, our test delivers unparalleled accuracy in detecting mutations associated with Baraitser-Winter Syndrome Type 2, enabling healthcare providers to make informed clinical decisions and develop targeted treatment strategies.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets the ACTG1 gene, which encodes gamma-actin, a crucial protein involved in cellular structure and function. The test identifies:
- Pathogenic variants in the ACTG1 gene associated with Baraitser-Winter Syndrome Type 2
- Missense mutations affecting actin protein function
- De novo mutations that occur spontaneously
- Inherited genetic variants with autosomal dominant inheritance patterns
- Specific nucleotide changes impacting neurological development
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with the following clinical features:
Primary Indications
- Children with developmental delays and intellectual disabilities
- Individuals with distinctive facial dysmorphism including hypertelorism, ptosis, and high-arched eyebrows
- Patients with neurological abnormalities such as seizures or hypotonia
- Those with growth retardation and microcephaly
- Individuals with iris coloboma or other ocular abnormalities
Clinical Scenarios Warranting Testing
- Unexplained developmental regression in early childhood
- Family history suggestive of autosomal dominant inheritance
- Diagnostic uncertainty in patients with multiple congenital anomalies
- Pre-symptomatic testing for at-risk family members
Significant Benefits of Genetic Testing
Undergoing the ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic DNA Test provides numerous advantages:
Diagnostic Clarity
- Provides definitive molecular diagnosis for accurate clinical management
- Eliminates diagnostic uncertainty and reduces unnecessary testing
- Enables precise genetic counseling for family planning
Clinical Management
- Facilitates development of personalized treatment plans
- Guides appropriate therapeutic interventions and monitoring
- Supports early intervention strategies for optimal outcomes
Family Planning and Genetic Counseling
- Provides recurrence risk information for future pregnancies
- Enables prenatal diagnosis options for at-risk families
- Supports informed reproductive decision-making
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret and understand your test results:
Positive Result Interpretation
- Confirmation of ACTG1 gene mutation associated with Baraitser-Winter Syndrome Type 2
- Detailed explanation of the specific genetic variant identified
- Information about inheritance patterns and family implications
- Guidance on clinical management and surveillance recommendations
Negative Result Interpretation
- Exclusion of ACTG1-related Baraitser-Winter Syndrome Type 2
- Discussion of alternative diagnostic considerations
- Recommendations for additional testing if clinically indicated
- Ongoing support for diagnostic evaluation
Variant of Uncertain Significance (VUS)
- Explanation of the genetic finding and its clinical implications
- Recommendations for family studies to clarify significance
- Ongoing monitoring and reclassification protocols
- Support for clinical decision-making despite uncertainty
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Methodology | Next-Generation Sequencing (NGS) |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, please prepare the following:
- Complete clinical history documentation for the patient
- Participation in genetic counseling session prior to testing
- Development of detailed pedigree chart documenting family medical history
- Informed consent process for genetic testing
- Insurance pre-authorization if applicable
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Phoenix, Arizona testing centers
- Philadelphia, Boston, Washington DC, and East Coast locations
- San Francisco, Seattle, and West Coast facilities
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate care and management. Our specialized genetic testing provides the answers you need for informed medical decision-making. With our comprehensive approach that includes genetic counseling and detailed result interpretation, you’ll receive the support and guidance necessary throughout your diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic DNA Test. Our genetic specialists are available to answer your questions and guide you through the testing process.
Experience the peace of mind that comes with definitive genetic diagnosis. Contact us now to begin your journey toward genetic clarity and personalized medical management.
