WNT5A Gene Robinow Syndrome Autosomal Dominant Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Robinow Syndrome Diagnosis
The WNT5A Gene Robinow Syndrome Autosomal Dominant Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify specific genetic mutations responsible for Robinow syndrome, a rare genetic disorder characterized by distinctive skeletal abnormalities and developmental concerns. This advanced genetic screening utilizes Next Generation Sequencing (NGS) technology to provide comprehensive analysis of the WNT5A gene, offering families and healthcare providers definitive answers for accurate diagnosis and informed medical management.
What This Test Measures and Detects
This specialized genetic test specifically targets the WNT5A gene, which plays a crucial role in embryonic development and skeletal formation. The test identifies:
- Pathogenic mutations in the WNT5A gene associated with autosomal dominant Robinow syndrome type 1
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Genetic variations affecting the Wnt signaling pathway
- Inheritance patterns confirming autosomal dominant transmission
- Specific mutation types including missense, nonsense, and frameshift variants
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following clinical features:
- Children or adults with characteristic facial features including frontal bossing, hypertelorism, and short upturned nose
- Individuals with mesomelic limb shortening (shortening of forearms and lower legs)
- Patients exhibiting brachydactyly (short fingers and toes) and clinodactyly
- Individuals with genital abnormalities in males (micropenis, cryptorchidism)
- Those with dental anomalies and gum hypertrophy
- Patients showing developmental delays or growth retardation
- Individuals with a family history of Robinow syndrome or similar skeletal dysplasias
- Couples planning pregnancy with known family history of the condition
Clinical Benefits of Genetic Testing
Undergoing the WNT5A genetic test provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out Robinow syndrome with high accuracy
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Personalized Medical Management: Guides appropriate surveillance and interventions
- Early Intervention: Facilitates timely orthopedic, dental, and developmental support
- Genetic Counseling: Provides clarity about inheritance risks for family members
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic WNT5A mutation, confirming Robinow syndrome diagnosis
- Negative Result: Suggests that WNT5A mutations were not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family planning
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| 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 |
Nationwide Testing Accessibility
GGC DNA maintains comprehensive testing facilities across the United States, with convenient 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 nationwide network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your family’s future. Our expert genetic counselors and advanced NGS technology provide the answers you need for informed healthcare decisions. Contact us today to schedule your WNT5A genetic test and begin your journey toward genetic clarity and personalized medical management.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or discuss your testing options with our genetic specialists.
