IGBP1 Gene Corpus Callosum Agenesis with Mental Retardation, Ocular Coloboma and Micrognathia NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The IGBP1 Gene Corpus Callosum Agenesis NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals affected by rare neurological conditions. This advanced genetic analysis utilizes Next-Generation Sequencing technology to identify mutations in the IGBP1 gene, which plays a critical role in brain development and function. The test provides definitive answers for patients and families struggling with complex neurological symptoms, enabling targeted treatment approaches and informed family planning decisions.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the IGBP1 gene to identify pathogenic variants associated with:
- Corpus callosum agenesis (complete or partial absence of the brain structure connecting hemispheres)
- Intellectual disability and developmental delays
- Ocular coloboma (congenital eye abnormalities)
- Micrognathia (underdeveloped lower jaw)
- Associated neurological and developmental complications
The test employs state-of-the-art NGS technology to sequence the entire IGBP1 gene, detecting point mutations, insertions, deletions, and other genetic variations that may contribute to this complex disorder.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with developmental delays or intellectual disability
- Patients with confirmed or suspected corpus callosum abnormalities on brain imaging
- Individuals with congenital eye abnormalities, particularly ocular coloboma
- Patients with craniofacial anomalies including micrognathia
- Families with history of similar neurological conditions
- Individuals undergoing genetic counseling for family planning
- Patients with unexplained neurological symptoms matching this disorder profile
Key Benefits of IGBP1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out IGBP1-related disorders with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Early Intervention: Facilitates timely implementation of developmental support services
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic IGBP1 gene mutations, confirming the diagnosis and enabling targeted management strategies
- Negative Result: Suggests that IGBP1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies
- Carrier Status: Provides information about inheritance patterns and recurrence risks
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | IGBP1 Gene Corpus Callosum Agenesis with Mental Retardation, Ocular Coloboma and Micrognathia NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
To ensure accurate results and comprehensive care, the following pre-test requirements are essential:
- Complete clinical history of the patient
- Genetic counseling session to discuss testing implications
- Development of pedigree chart documenting affected family members
- Review of previous neurological evaluations and imaging studies
- Informed consent process explaining test benefits and limitations
Nationwide Accessibility
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. Our network of certified collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Answers
If you or a loved one are experiencing symptoms consistent with IGBP1-related disorders, don’t wait to get the answers you need. Our team of genetic specialists and neurologists is ready to provide comprehensive testing and support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Take control of your neurological health with definitive genetic insights from America’s leading diagnostic provider.
