ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Brain Development Disorders
The ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with holoprosencephaly, a complex brain development disorder. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the ZIC2 gene, which plays a crucial role in early brain formation and development.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets mutations in the ZIC2 gene that are known to cause holoprosencephaly type 5. The test detects:
- Point mutations and small insertions/deletions in the ZIC2 gene
- Genetic variants affecting zinc finger protein of cerebellum 2 function
- Mutations disrupting normal brain hemisphere separation during development
- Pathogenic variants associated with abnormal forebrain development
- Inherited and de novo genetic changes affecting neurological development
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Infants or children with midline facial abnormalities
- Patients with developmental delays and neurological symptoms
- Individuals with family history of holoprosencephaly or brain malformations
- Prenatal cases with ultrasound findings suggesting brain development issues
- Patients with unexplained intellectual disability and facial dysmorphism
- Families seeking genetic counseling for recurrence risk assessment
Clinical Symptoms and Indications
The ZIC2 gene mutation testing is indicated when patients exhibit symptoms including:
- Midline facial defects such as cleft lip/palate
- Single central incisor or other dental abnormalities
- Hypotelorism or closely spaced eyes
- Developmental delay and intellectual disability
- Seizures or neurological abnormalities
- Pituitary dysfunction and endocrine issues
- Abnormal brain imaging findings
Benefits of ZIC2 Genetic Testing
Accurate Diagnosis and Management
Receiving the ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic DNA Test provides numerous clinical benefits:
- Precise Diagnosis: Confirms or rules out ZIC2-related holoprosencephaly with high accuracy
- Treatment Guidance: Helps direct appropriate medical management and interventions
- Family Planning: Provides recurrence risk information for future pregnancies
- Early Intervention: Enables timely implementation of developmental support services
- Comprehensive Analysis: NGS technology ensures thorough examination of the ZIC2 gene
- Genetic Counseling: Includes professional guidance for result interpretation
Understanding Your Test Results
Interpreting Genetic Findings
Your ZIC2 gene test results will fall into one of several categories:
- Positive Result: Indicates a pathogenic mutation in the ZIC2 gene is present, confirming the genetic cause of symptoms
- Negative Result: No disease-causing mutations detected in the ZIC2 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: A genetic change is found, but its clinical significance is currently unknown
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps. Our genetic specialists will guide you through the implications of your results and discuss available management options.
Test Information and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic DNA Test | – |
| Discount Price | Special promotional rate | $500 |
| Regular Price | Standard testing cost | $700 |
| Turnaround Time | Results delivery period | 3-4 Weeks |
| Sample Type | Accepted specimens | Blood, Extracted DNA, or One drop Blood on FTA Card |
Pre-Test Requirements
Before scheduling your ZIC2 genetic test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of affected family members with similar conditions
- Review of previous medical evaluations and imaging studies
Nationwide Testing Availability
We proudly offer the ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic DNA Test 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, San Jose, and many other cities. Our network of certified genetic testing facilities ensures accessible, reliable service no matter where you’re located.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. The ZIC2 Gene Holoprosencephaly Type 5 NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Ready to schedule your genetic test? Contact us today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with comprehensive, accurate testing from trusted genetics professionals.
