TUBGCP6 Gene Microcephaly and Chorioretinopathy with or without Mental Retardation NGS Genetic DNA Test
Understanding TUBGCP6 Genetic Testing
The TUBGCP6 Gene Microcephaly and Chorioretinopathy NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the TUBGCP6 gene, which plays a critical role in brain development and retinal function. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide detailed insights into complex neurological and visual disorders that often present in early childhood.
What Does the TUBGCP6 Gene Test Measure?
This advanced genetic test specifically targets the TUBGCP6 gene, which encodes a crucial component of the gamma-tubulin complex involved in microtubule organization. The test detects:
- Pathogenic variants and mutations in the TUBGCP6 gene
- Single nucleotide polymorphisms (SNPs) associated with microcephaly
- Genetic alterations linked to chorioretinopathy development
- Inheritance patterns for family planning purposes
- Risk assessment for future generations
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with specific clinical features:
Primary Indications
- Infants and children with microcephaly (head circumference below the 3rd percentile)
- Individuals with unexplained developmental delays or intellectual disability
- Patients diagnosed with chorioretinopathy or retinal abnormalities
- Children with combined neurological and visual symptoms
- Family members of individuals with confirmed TUBGCP6 mutations
Symptom Presentation
- Progressive microcephaly developing after birth
- Visual impairment or abnormal eye movements
- Developmental regression or plateau
- Motor coordination difficulties
- Seizures or epilepsy
- Intellectual disability of varying severity
Clinical Benefits of TUBGCP6 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
Diagnostic Clarity
- Provides definitive diagnosis for complex neurological conditions
- Differentiates between similar presenting disorders
- Eliminates diagnostic uncertainty and unnecessary testing
- Enables accurate prognosis and disease progression prediction
Treatment and Management
- Facilitates personalized treatment approaches
- Guides appropriate therapeutic interventions
- Supports early intervention strategies
- Informs educational and developmental support planning
Family Planning
- Provides recurrence risk information for future pregnancies
- Enables prenatal testing options
- Supports genetic counseling for family members
- Facilitates carrier testing for relatives
Understanding Your Test Results
Interpreting genetic test results requires professional medical guidance. Our genetic counselors provide comprehensive result explanations:
Positive Results
- Confirmation of pathogenic TUBGCP6 gene mutation
- Detailed explanation of specific variant implications
- Personalized management recommendations
- Family testing guidance and resources
Negative Results
- Exclusion of TUBGCP6-related disorders
- Recommendations for additional testing if indicated
- Continued clinical monitoring as appropriate
- Alternative diagnostic considerations
Variant of Uncertain Significance
- Explanation of uncertain genetic findings
- Ongoing research and database monitoring
- Family studies recommendations
- Periodic re-evaluation as knowledge advances
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TUBGCP6 Gene Microcephaly and Chorioretinopathy with or without Mental Retardation 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of affected family members
- Documentation of neurological and ophthalmological evaluations
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological and visual symptoms delay proper diagnosis and treatment. Our specialized TUBGCP6 genetic testing provides the answers families need for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our knowledgeable genetic specialists are ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can make a significant difference in management outcomes for microcephaly and chorioretinopathy conditions. Take control of your genetic health journey with GGC DNA’s comprehensive testing services.
