WDR35 Gene Short-Rib Thoracic Dysplasia Type 7 with or without Polydactyly NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Dysplasia Disorders
The WDR35 Gene Short-Rib Thoracic Dysplasia Type 7 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with skeletal dysplasia conditions. This specialized test utilizes Next-Generation Sequencing (NGS) technology to analyze the WDR35 gene, which plays a critical role in skeletal development and ciliary function. Short-rib thoracic dysplasia type 7 is a rare genetic disorder characterized by distinctive skeletal abnormalities that can significantly impact respiratory function and overall development.
What Does This Genetic Test Detect?
This comprehensive genetic analysis specifically targets mutations in the WDR35 gene, which encodes a protein essential for proper ciliary function and skeletal formation. The test identifies:
- Pathogenic variants in the WDR35 gene associated with short-rib thoracic dysplasia
- Genetic mutations causing narrowed thoracic cavity and shortened ribs
- Variants linked to polydactyly (extra fingers or toes)
- Inheritance patterns for family planning purposes
- Specific nucleotide changes affecting protein function
Who Should Consider WDR35 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with:
- Newborns or children with narrow chest and respiratory difficulties
- Individuals with shortened ribs and thoracic cage abnormalities
- Patients with polydactyly (extra digits) alongside skeletal issues
- Family history of skeletal dysplasia disorders
- Couples with previous affected children planning future pregnancies
- Individuals with unexplained skeletal abnormalities
- Patients requiring definitive diagnosis for proper medical management
Clinical Benefits of WDR35 Genetic Testing
Undergoing WDR35 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of short-rib thoracic dysplasia type 7
- Personalized Treatment: Enables targeted medical interventions and surgical planning
- Family Planning: Offers crucial information for reproductive decision-making
- Early Intervention: Facilitates prompt medical management and supportive care
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Your WDR35 genetic test results will be carefully interpreted by our expert geneticists:
- Positive Result: Indicates presence of pathogenic WDR35 mutation confirming diagnosis
- Negative Result: Suggests absence of detectable WDR35 mutations in tested regions
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals carrying one copy of mutated gene
All results include detailed explanations and recommendations for next steps, including consultation with our genetic counseling team for comprehensive understanding and family planning guidance.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure accurate and reliable results with a standard turnaround time of 3-4 weeks.
Sample Collection and Preparation
This test accepts multiple sample types for your convenience:
- Blood samples collected by certified phlebotomists
- Extracted DNA from previous genetic testing
- One drop of blood on FTA card for easy transport
Prior to testing, we recommend genetic counseling to discuss family history and create a detailed pedigree chart of affected family members.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal dysplasia conditions affect your family’s future. Our expert team of genetic counselors and medical professionals is ready to guide you through the testing process and provide comprehensive support. Schedule your WDR35 genetic test today to gain valuable insights into your genetic health and make informed decisions about your medical care.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. Take control of your genetic health with confidence and clarity.
