IRX5 Gene Hamamy Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hamamy Syndrome Diagnosis
The IRX5 Gene Hamamy Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics, specifically designed to identify mutations in the IRX5 gene that cause Hamamy syndrome. This rare genetic disorder, characterized by distinctive facial features and ocular abnormalities, requires precise genetic confirmation for accurate diagnosis and appropriate medical management. Our advanced testing methodology provides families and healthcare providers with definitive answers about this complex condition.
What Does the Test Measure and Detect?
This specialized genetic test employs Next-Generation Sequencing (NGS) technology to comprehensively analyze the IRX5 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the IRX5 gene
- Genetic variations associated with Hamamy syndrome inheritance patterns
- Pathogenic mutations responsible for characteristic dysmorphic features
- Variants affecting ocular development and skeletal formation
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Distinctive facial dysmorphism including prominent forehead and hypertelorism
- Ocular abnormalities such as cataracts, microphthalmia, or coloboma
- Skeletal features including brachydactyly or other digital anomalies
- Family history suggestive of autosomal recessive inheritance pattern
- Developmental delays or growth concerns in pediatric patients
- Unexplained combination of facial, ocular, and skeletal abnormalities
Key Benefits of IRX5 Genetic Testing
Undergoing the IRX5 Gene Hamamy Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Hamamy syndrome
- Family Planning Guidance: Enables informed reproductive decisions through genetic counseling
- Personalized Medical Management: Guides appropriate surveillance and intervention strategies
- Early Intervention: Facilitates timely management of associated health concerns
- Genetic Counseling Support: Comprehensive pre-test and post-test genetic counseling included
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your IRX5 gene analysis results:
- Positive Result: Indicates the presence of pathogenic IRX5 gene mutations consistent with Hamamy syndrome diagnosis
- Negative Result: Suggests no detectable mutations in the IRX5 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | IRX5 Gene Hamamy 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 |
Pre-Test Requirements and Genetic Counseling
Before undergoing the IRX5 Gene Hamamy Syndrome NGS Genetic DNA Test, patients should provide:
- Complete clinical history documenting symptoms and physical findings
- Participation in genetic counseling session to discuss testing implications
- Development of detailed pedigree chart documenting family members affected by similar conditions
- Understanding of test limitations, benefits, and potential outcomes
Nationwide Testing Availability
We have diagnostic branches 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, and San Jose. Our comprehensive network ensures accessible genetic testing services for families throughout the country.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of Hamamy syndrome or have a family history of similar conditions, the IRX5 Gene Hamamy Syndrome NGS Genetic DNA Test can provide the answers you need. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the IRX5 Gene Hamamy Syndrome NGS Genetic DNA Test. Take control of your genetic health with our advanced diagnostic services.
