WDR60 Gene Short-Rib Thoracic Dysplasia Type 8 with or without Polydactyly NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Disorders
The WDR60 Gene Short-Rib Thoracic Dysplasia Type 8 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare skeletal conditions. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify specific mutations in the WDR60 gene that are responsible for Short-Rib Thoracic Dysplasia Type 8, a condition characterized by abnormal skeletal development and potential polydactyly (extra fingers or toes).
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the WDR60 gene, which plays a critical role in ciliary function and skeletal development. The test detects:
- Point mutations, insertions, and deletions in the WDR60 gene
- Pathogenic variants associated with Short-Rib Thoracic Dysplasia Type 8
- Genetic markers for polydactyly manifestations
- Inheritance patterns (autosomal recessive)
- Carrier status for family members
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Newborns or infants with respiratory distress due to thoracic abnormalities
- Children with short ribs and narrow chest cavity
- Individuals with polydactyly (extra fingers or toes)
- Family history of skeletal dysplasias or ciliopathies
- Unexplained skeletal abnormalities detected during prenatal ultrasound
- Previous pregnancies affected by skeletal dysplasia
- Consanguineous parents seeking preconception screening
Clinical Symptoms and Indications
Short-Rib Thoracic Dysplasia Type 8 typically presents with:
- Severely narrow thorax with short horizontal ribs
- Respiratory insufficiency in infancy
- Short limbs (rhizomelia)
- Postaxial polydactyly (extra digits on the ulnar side)
- Abnormal pelvic bone development
- Cardiac and renal abnormalities in some cases
Benefits of Genetic Testing
Accurate Diagnosis and Management
Genetic confirmation through WDR60 testing provides numerous clinical benefits:
- Precise Diagnosis: Differentiates between various types of skeletal dysplasias
- Treatment Guidance: Informs respiratory management and surgical planning
- Genetic Counseling: Provides recurrence risk information for family planning
- Early Intervention: Enables proactive management of potential complications
- Carrier Detection: Identifies asymptomatic family members who may carry the mutation
- Prenatal Diagnosis: Allows for informed reproductive decisions in future pregnancies
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies pathogenic variants in the WDR60 gene confirming the diagnosis of Short-Rib Thoracic Dysplasia Type 8
- Negative Result: No pathogenic variants detected, though clinical correlation is essential
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals with one copy of the mutated gene who are typically asymptomatic
Post-Test Recommendations
Following your test results, we recommend:
- Comprehensive genetic counseling session
- Multidisciplinary care coordination with pediatric specialists
- Family screening for at-risk relatives
- Regular follow-up with our genetic specialists
- Access to support resources and patient advocacy groups
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | WDR60 Gene Short-Rib Thoracic Dysplasia Type 8 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) |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements
Before scheduling your WDR60 genetic test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree chart creation documenting affected relatives
- Informed consent for genetic testing
- Insurance pre-authorization if applicable
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 genetic counselors and phlebotomists ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal abnormalities affect your family’s future. Our comprehensive WDR60 genetic testing provides the answers you need for informed medical decisions and peace of mind. With our discounted price of $500 USD and nationwide availability, accessing advanced genetic diagnostics has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your WDR60 Gene Short-Rib Thoracic Dysplasia Type 8 NGS Genetic DNA Test. Our dedicated genetic specialists are ready to guide you through every step of the testing process and help you understand your results with compassion and expertise.
