ZIC1 Gene Craniosynostosis Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Craniosynostosis
The ZIC1 Gene Craniosynostosis Type 6 NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering families and healthcare providers precise molecular insights into one of the most complex congenital conditions affecting cranial development. This advanced genetic analysis specifically targets mutations in the ZIC1 gene, which plays a critical role in embryonic development and cranial suture formation.
What is Craniosynostosis Type 6?
Craniosynostosis type 6 is a rare genetic disorder characterized by the premature fusion of one or more cranial sutures, leading to abnormal head shape and potential neurological complications. The condition results from mutations in the ZIC1 gene, which encodes a zinc finger protein essential for proper neural crest cell development and cranial bone formation during fetal development.
What the Test Detects
Our advanced NGS (Next-Generation Sequencing) technology enables comprehensive analysis of the ZIC1 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Regulatory region variants affecting gene expression
- Both inherited and de novo genetic changes
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Infants with abnormal head shape or cranial deformities
- Children showing signs of premature suture fusion
- Family history of craniosynostosis or related cranial abnormalities
- Unexplained developmental delays with cranial involvement
- Previous inconclusive genetic testing for cranial disorders
- Parents planning future pregnancies with family history of craniosynostosis
Clinical Symptoms and Indicators
- Abnormally shaped skull (scaphocephaly, brachycephaly, trigonocephaly)
- Ridged or prominent cranial sutures
- Developmental delays in motor or cognitive functions
- Increased intracranial pressure symptoms
- Facial asymmetry or dysmorphic features
- Vision or hearing abnormalities related to cranial compression
Benefits of ZIC1 Genetic Testing
Choosing our comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of ZIC1 gene mutations confirms craniosynostosis type 6 diagnosis
- Treatment Guidance: Results inform surgical planning and timing for cranial reconstruction
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Early Intervention: Facilitates timely medical and surgical interventions
- Comprehensive Care: Supports multidisciplinary approach involving neurosurgeons, geneticists, and pediatric specialists
- Genetic Counseling: Provides basis for family genetic counseling and risk assessment
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation and clinical guidance:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the ZIC1 gene, confirming the diagnosis of craniosynostosis type 6. This finding enables:
- Confirmation of clinical diagnosis
- Development of targeted treatment plans
- Family member testing recommendations
- Referral to craniofacial specialists
- Discussion of surgical intervention timing
Negative Result
A negative result suggests that no pathogenic ZIC1 mutations were detected, which may indicate:
- Alternative genetic causes of craniosynostosis
- Non-genetic factors contributing to cranial abnormalities
- Need for additional genetic testing for other craniosynostosis genes
- Consideration of environmental or syndromic causes
Variant of Uncertain Significance (VUS)
If a genetic variant of uncertain significance is identified, our genetic counselors provide:
- Detailed explanation of the finding
- Recommendations for family studies
- Guidance on clinical management
- Information about ongoing research and variant classification updates
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ZIC1 Gene Craniosynostosis Type 6 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics, Dysmorphology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session with our certified genetic counselors
- Development of a detailed pedigree chart documenting family history
- Informed consent for genetic testing
- Clinical documentation of cranial abnormalities
Nationwide Testing Availability
We have testing facilities conveniently located across the United States, serving patients in all major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Phoenix, Arizona testing centers
- Miami, Florida genetic testing locations
- And many more cities nationwide
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about cranial development concerns affect your family’s future. Our comprehensive ZIC1 genetic testing provides the answers you need for informed medical decisions and peace of mind.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate genetic specialists are ready to guide you through every step of the testing process and help you understand what your results mean for your family’s health journey.
Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Take control of your genetic health today with our advanced ZIC1 Gene Craniosynostosis Type 6 NGS Genetic DNA Test.
