WDR34 Gene Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Dysplasia Disorders
The WDR34 Gene Short-Rib Thoracic Dysplasia Type 11 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal disorders. This advanced test utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the WDR34 gene, which plays a critical role in skeletal development and ciliary function. Short-rib thoracic dysplasia type 11 is an autosomal recessive disorder characterized by distinctive skeletal abnormalities that can significantly impact respiratory function and overall development.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the WDR34 gene to identify pathogenic variants associated with:
- Missense, nonsense, and frameshift mutations in the WDR34 gene
- Autosomal recessive inheritance patterns
- Genetic variants affecting ciliary function and skeletal development
- Specific mutations linked to short-rib thoracic dysplasia type 11
- Potential genetic markers for polydactyly manifestations
The test provides complete sequencing of the WDR34 gene coding regions and flanking intronic sequences, ensuring comprehensive coverage of all potential mutation sites.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following clinical features:
- Newborns or infants with narrow thoracic cage and short ribs
- Individuals with skeletal dysplasia affecting rib development
- Patients with polydactyly (extra fingers or toes) alongside skeletal abnormalities
- Children experiencing respiratory difficulties due to thoracic constriction
- Individuals with family history of short-rib thoracic dysplasia
- Couples with previous affected children planning future pregnancies
- Patients with unexplained skeletal abnormalities requiring genetic diagnosis
Key Benefits of WDR34 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out WDR34-related skeletal dysplasia with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Treatment Planning: Guides appropriate medical management and interventions
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides essential information for understanding inheritance patterns
- Early Intervention: Facilitates timely medical care and support services
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic WDR34 mutations, confirming diagnosis and enabling targeted management
- Negative Result: Suggests WDR34 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation
- Carrier Status: Determines if individuals carry one copy of mutated gene without disease manifestation
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | WDR34 Gene Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly 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 |
Nationwide Accessibility
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 counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our WDR34 genetic test provides the answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling included, you’ll receive expert guidance every step of the way.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
