DDX59 Gene Orofaciodigital Syndrome Type 5 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Orofaciodigital Syndrome
The DDX59 Gene Orofaciodigital Syndrome Type 5 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare congenital disorders. This advanced testing methodology utilizes next-generation sequencing technology to provide comprehensive analysis of the DDX59 gene, which plays a critical role in normal embryonic development and cellular function.
What This Test Measures and Detects
Our specialized genetic test specifically targets mutations in the DDX59 gene that are known to cause orofaciodigital syndrome type 5. The test examines:
- Point mutations and single nucleotide variants in the DDX59 gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact gene expression
- Structural variations in the genetic sequence
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of orofaciodigital syndrome type 5, including:
- Newborns and children with facial dysmorphism including cleft lip/palate
- Individuals with digital anomalies such as polydactyly or syndactyly
- Patients with oral abnormalities including tongue nodules or dental anomalies
- Those with family history of orofaciodigital syndromes
- Individuals with developmental delays and neurological symptoms
- Patients with unexplained congenital malformations affecting multiple systems
Clinical Benefits of Genetic Testing
Undergoing the DDX59 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out orofaciodigital syndrome type 5 with high precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Treatment Guidance: Helps develop targeted management strategies for affected individuals
- Prognostic Information: Provides insights into disease progression and potential complications
- Genetic Counseling: Supports comprehensive genetic counseling for patients and families
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic mutation in the DDX59 gene, confirming diagnosis of orofaciodigital syndrome type 5
- Negative Result: Suggests no detectable mutations in the DDX59 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | DDX59 Gene Orofaciodigital Syndrome Type 5 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 test, please ensure:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Review of previous genetic testing and medical evaluations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities 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 patients nationwide.
Take the Next Step in Genetic Health
Don’t let uncertainty about genetic conditions affect your family’s future. Our DDX59 genetic test provides the clarity needed for informed medical decisions and comprehensive care planning. With our discounted price of $500 USD and rapid 3-4 week turnaround, you can access cutting-edge genetic diagnostics without delay.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
