WDR35 Gene Cranioectodermal Dysplasia Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Sensenbrenner Syndrome
The WDR35 Gene Cranioectodermal Dysplasia Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Cranioectodermal Dysplasia Type 2, commonly known as Sensenbrenner syndrome. This rare genetic disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management.
What This Advanced Genetic Test Detects
Our specialized NGS-based genetic test specifically targets the WDR35 gene, which encodes a crucial protein involved in ciliary function and intraflagellar transport. The test identifies:
- Pathogenic variants in the WDR35 gene responsible for autosomal recessive inheritance
- Missense, nonsense, frameshift, and splice-site mutations
- Copy number variations affecting gene function
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with characteristic features of Cranioectodermal Dysplasia Type 2:
- Infants and children with distinctive craniofacial features including dolichocephaly, frontal bossing, and hypertelorism
- Patients exhibiting ectodermal abnormalities such as sparse hair, dental anomalies, and nail dysplasia
- Individuals with skeletal manifestations including short limbs, narrow thorax, and brachydactyly
- Children experiencing developmental delays or growth retardation
- Patients with renal involvement or hepatic fibrosis
- Families with history of similar symptoms suggesting genetic inheritance
Key Benefits of Genetic Testing
Undergoing the WDR35 Gene Cranioectodermal Dysplasia Type 2 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms genetic basis of symptoms, eliminating diagnostic uncertainty
- Personalized Management: Enables targeted medical care and surveillance for associated complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of appropriate therapies and support services
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your genetic profile:
- Positive Result: Identifies pathogenic variants in the WDR35 gene, confirming diagnosis of Cranioectodermal Dysplasia Type 2
- Negative Result: No disease-causing variants detected in the WDR35 gene, though clinical evaluation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance for next steps.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | WDR35 Gene Cranioectodermal Dysplasia Type 2 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 |
| Testing Method | Next Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics |
| Department | Genetics |
Nationwide Testing Availability
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 collection centers ensures accessible genetic testing services nationwide.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate care. Our WDR35 Gene Cranioectodermal Dysplasia Type 2 NGS Genetic DNA Test provides the genetic answers you need for informed medical decisions and personalized treatment planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or book online through our secure patient portal.
Our dedicated genetic specialists are available to answer your questions, discuss testing options, and guide you through the entire process. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
