ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Roberts Syndrome
The ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying Roberts Syndrome, a rare autosomal recessive genetic disorder characterized by severe limb malformations and craniofacial abnormalities. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive evaluation of the ESCO2 gene, which plays a critical role in chromosome cohesion and proper cell division.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the ESCO2 gene located on chromosome 8p21.1. The test detects:
- Pathogenic variants and mutations in the ESCO2 gene
- Single nucleotide polymorphisms (SNPs) associated with Roberts Syndrome
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations that cause the autosomal recessive condition
- Specific genetic markers linked to phocomelia and craniofacial dysmorphism
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Newborns and children with limb abnormalities including phocomelia (shortened limbs), tetraphocomelia, or oligodactyly
- Individuals with craniofacial features such as cleft lip/palate, micrognathia, or hypertelorism
- Patients exhibiting growth retardation and developmental delays
- Those with prenatal ultrasound findings suggesting limb reduction defects
- Family history of Roberts Syndrome or consanguineous parents
- Couples with previous affected children seeking recurrence risk assessment
Clinical Benefits of ESCO2 Genetic Testing
Undergoing ESCO2 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Roberts Syndrome with molecular precision, eliminating diagnostic uncertainty
- Family Planning Guidance: Provides carrier testing and recurrence risk information for future pregnancies
- Early Intervention: Enables timely medical management and specialized care planning
- Genetic Counseling: Supports informed decision-making for affected families
- Differential Diagnosis: Helps distinguish Roberts Syndrome from other similar conditions
- Prognostic Information: Assists in anticipating potential complications and outcomes
Understanding Your Test Results
Your ESCO2 genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates pathogenic mutations in both ESCO2 gene copies, confirming Roberts Syndrome diagnosis
- Carrier Status: Shows a single mutated ESCO2 gene copy, indicating carrier status without disease manifestation
- Negative Result: No pathogenic ESCO2 mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ESCO2 Gene SC Phocomelia Syndrome 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
Before scheduling your ESCO2 genetic test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process completion
Nationwide Testing Availability
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 genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about Roberts Syndrome affect your family’s future. Our expert genetic team is ready to provide comprehensive testing and support. Schedule your ESCO2 genetic test today to gain the clarity you need for informed medical decisions and family planning.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or request more information about our ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test.
Our dedicated genetic counselors and medical professionals are available to answer your questions, discuss testing options, and guide you through the entire process with compassion and expertise.
