DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Robinow Syndrome Diagnosis
The DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the DVL1 gene, which are responsible for causing Robinow syndrome type 2. This autosomal dominant condition affects multiple body systems, primarily characterized by distinctive skeletal abnormalities and facial features. Our advanced genetic testing utilizes next-generation sequencing technology to provide highly accurate and reliable results, enabling healthcare providers to make informed clinical decisions and offer appropriate genetic counseling to affected families.
What This Test Measures and Detects
This specialized genetic test specifically targets the DVL1 gene located on chromosome 1p36.33, which plays a crucial role in the Wnt signaling pathway essential for normal embryonic development. The test employs sophisticated next-generation sequencing methodology to identify:
- Point mutations, deletions, and insertions within the DVL1 gene
- Pathogenic variants associated with Robinow syndrome type 2
- Specific genetic markers that confirm autosomal dominant inheritance patterns
- Novel mutations that may not be detected through conventional genetic testing methods
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals presenting with clinical features suggestive of Robinow syndrome, including:
- Infants and children with mesomelic limb shortening (shortened forearms and lower legs)
- Individuals with characteristic facial features including frontal bossing, hypertelorism, and midface hypoplasia
- Patients exhibiting genital abnormalities such as micropenis or cryptorchidism in males
- Children with dental anomalies including crowded teeth and gum hypertrophy
- Individuals with short stature and brachydactyly (short fingers and toes)
- Patients with vertebral segmentation defects and rib anomalies
- Those with a family history of Robinow syndrome or similar skeletal dysplasias
Significant Benefits of Genetic Testing
Undergoing the DVL1 Gene Robinow Syndrome test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out Robinow syndrome type 2 with high precision
- Personalized Management: Enables tailored medical care and monitoring based on genetic findings
- Family Planning Guidance: Provides essential information for reproductive decision-making
- Early Intervention: Facilitates timely implementation of appropriate therapies and interventions
- Genetic Counseling: Supports informed discussions about inheritance patterns and recurrence risks
- Research Contribution: Advances scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your test findings:
- Positive Result: Indicates the presence of a pathogenic mutation in the DVL1 gene, confirming the diagnosis of Robinow syndrome type 2
- Negative Result: Suggests that no disease-causing mutations were detected in the DVL1 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries a single copy of a mutated gene
All results are accompanied by detailed explanations and recommendations for follow-up care. Our genetic counselors are available to help you understand your results and discuss next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 NGS Genetic DNA Test – Discount Price | $500 |
| DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with conveniently located branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent quality and reliable results regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your loved one exhibits symptoms suggestive of Robinow syndrome or has a family history of this condition, don’t delay in seeking genetic answers. Our specialized DVL1 gene testing provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward understanding your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 NGS Genetic DNA Test and take advantage of our special discounted pricing of $500 USD.
