ERF Gene Craniosynostosis Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Craniosynostosis Disorders
The ERF Gene Craniosynostosis Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for cranial development disorders. This advanced next-generation sequencing test specifically targets mutations in the ERF (ETS2 Repressor Factor) gene, which plays a critical role in regulating bone development and cranial suture formation. Craniosynostosis type 4, also known as ERF-related craniosynostosis, is a rare genetic condition characterized by premature fusion of skull bones, leading to abnormal head shape and potential neurological complications.
What Does This Test Measure?
Our comprehensive NGS genetic test analyzes the entire coding region of the ERF gene to identify pathogenic variants including:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations affecting the ERF gene
- Regulatory region mutations impacting gene expression
The test utilizes cutting-edge next-generation sequencing technology to provide high-resolution analysis of the ERF gene with exceptional accuracy and reliability. This comprehensive approach ensures detection of both common and rare mutations associated with craniosynostosis type 4.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants or children with abnormal skull shape or premature cranial suture closure
- Individuals with facial dysmorphism including midface hypoplasia
- Patients with developmental delays and craniosynostosis
- Family history of craniosynostosis or related cranial abnormalities
- Unexplained syndromic features with cranial involvement
- Individuals undergoing evaluation for surgical intervention
Clinical Benefits of ERF Gene Testing
Undergoing the ERF Gene Craniosynostosis Type 4 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out ERF-related craniosynostosis with high precision
- Treatment Guidance: Informs surgical planning and timing for cranial reconstruction
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Enables timely management to prevent complications
- Comprehensive Care: Facilitates multidisciplinary approach involving neurosurgeons, geneticists, and pediatric specialists
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies a pathogenic mutation in the ERF gene, confirming diagnosis of craniosynostosis type 4
- Negative Result: No mutation detected in the ERF gene, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry ERF gene mutations without showing symptoms
All results include detailed clinical interpretation and recommendations for follow-up care. Our genetic counseling team is available to help you understand your results and their implications for your health and family.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ERF Gene Craniosynostosis Type 4 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 |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with craniosynostosis symptoms
- Referral from a qualified healthcare provider
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 ensures accessible genetic testing services for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about craniosynostosis affect your family’s future. Our ERF Gene Craniosynostosis Type 4 NGS Genetic DNA Test provides the answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Our specialists are ready to guide you through the testing process and help you understand your results.
Early diagnosis through genetic testing can make a significant difference in treatment outcomes and quality of life. Take the first step toward clarity and comprehensive care by booking your ERF gene test today.
