WDR19 Gene Short-Rib Thoracic Dysplasia Type 5 with or without Polydactyly NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Dysplasia Disorders
The WDR19 Gene Short-Rib Thoracic Dysplasia Type 5 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare skeletal disorders characterized by thoracic abnormalities and potential limb malformations. This specialized genetic analysis provides critical insights into the underlying genetic causes of skeletal dysplasia, enabling accurate diagnosis and informed medical management.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets the WDR19 gene, which plays a crucial role in ciliary function and skeletal development. The test detects:
- Pathogenic mutations in the WDR19 gene associated with skeletal dysplasia
- Genetic variants responsible for short-rib thoracic dysplasia type 5
- Mutations linked to polydactyly and other limb abnormalities
- Inheritance patterns for genetic counseling purposes
- Specific nucleotide changes affecting protein function
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Newborns or infants with narrow thoracic cages and respiratory distress
- Children displaying shortened ribs and thoracic abnormalities
- Individuals with polydactyly (extra fingers or toes)
- Patients with skeletal malformations and growth restrictions
- Families with history of skeletal dysplasia disorders
- Cases where conventional diagnostic methods have been inconclusive
Clinical Symptoms and Indications
Common clinical presentations that warrant consideration of WDR19 genetic testing include:
- Severe thoracic constriction affecting lung development
- Shortened ribs visible on radiographic imaging
- Respiratory complications in infancy
- Limb shortening and skeletal abnormalities
- Postaxial polydactyly (extra digits)
- Growth retardation and developmental delays
- Characteristic facial features associated with ciliopathies
Significant Benefits of WDR19 Genetic Testing
Accurate Diagnosis and Prognostic Information
This advanced genetic test provides definitive diagnostic confirmation, eliminating diagnostic uncertainty and enabling targeted medical interventions. Understanding the specific genetic mutation allows for personalized treatment planning and accurate prognosis assessment.
Family Planning and Genetic Counseling
The test results offer invaluable information for genetic counseling, helping families understand inheritance patterns and recurrence risks. This knowledge supports informed reproductive decisions and provides clarity for future family planning.
Early Intervention Opportunities
Early genetic diagnosis facilitates timely medical interventions, including respiratory support, nutritional management, and specialized orthopedic care. Proactive management can significantly improve quality of life and developmental outcomes.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the WDR19 gene associated with short-rib thoracic dysplasia type 5. This confirmation enables:
- Definitive diagnosis of the genetic condition
- Implementation of appropriate medical management strategies
- Genetic counseling for family members
- Connection with specialized medical teams
Negative Result Considerations
A negative result suggests that no pathogenic WDR19 mutations were detected. However, clinical correlation remains essential, as other genetic or environmental factors may contribute to similar clinical presentations.
Variant of Uncertain Significance
In some cases, genetic variants of uncertain significance may be identified. These findings require careful interpretation by genetic specialists and may warrant additional family studies for clarification.
Test Pricing and Technical Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Accessibility and Support
We maintain comprehensive testing facilities across the United States, with specialized genetic testing centers in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities. Our network ensures convenient access to advanced genetic diagnostics regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate medical care. Our specialized genetic testing team is ready to provide the answers you need for informed medical decision-making. Contact us today to schedule your WDR19 genetic testing and begin your journey toward definitive diagnosis and targeted treatment.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or discuss testing options with our genetic specialists. Our compassionate team is available to answer your questions and guide you through the testing process with expertise and care.
