ROR2 Gene Brachydactyly Type B1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Limb Development Disorders
The ROR2 Gene Brachydactyly Type B1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Brachydactyly Type B1, a rare congenital condition affecting finger and toe development. This sophisticated test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the ROR2 gene, which plays a critical role in skeletal formation and limb patterning during embryonic development.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets mutations in the ROR2 (Receptor Tyrosine Kinase-like Orphan Receptor 2) gene, which is essential for proper bone growth and development. The test detects:
- Pathogenic variants in the ROR2 gene associated with Brachydactyly Type B1
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertions, deletions, and duplication mutations
- Missense, nonsense, and frameshift mutations
- Regulatory region variations impacting gene expression
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals exhibiting the following symptoms or circumstances:
- Children or adults with shortened fingers and/or toes
- Individuals with missing or underdeveloped distal phalanges
- Patients with family history of Brachydactyly Type B1
- Couples planning pregnancy with known genetic risks
- Individuals with unexplained limb abnormalities
- Patients undergoing differential diagnosis for skeletal dysplasias
Clinical Benefits of ROR2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Brachydactyly Type B1 with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Treatment Planning: Guides appropriate medical and surgical interventions
- Genetic Counseling: Provides basis for personalized genetic counseling sessions
- Early Intervention: Facilitates timely management strategies for affected children
- Research Contribution: Adds to the growing understanding of skeletal development disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Possible outcomes include:
- Positive Result: Indicates the presence of a pathogenic ROR2 mutation consistent with Brachydactyly Type B1 diagnosis
- Negative Result: Suggests no detectable ROR2 mutations, though clinical evaluation remains important
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- 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 and Genetics
- Disease Category: Dysmorphology
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to limb abnormalities
- Participation in a genetic counseling session
- Detailed pedigree chart documenting family members affected by similar conditions
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly offer the ROR2 Gene Brachydactyly Type B1 NGS Genetic DNA Test at our state-of-the-art facilities across the United States. Our network includes testing centers in:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
And many other major metropolitan areas throughout the country.
Take the Next Step Toward Genetic Clarity
If you or your family members are experiencing symptoms of Brachydactyly Type B1 or have concerns about genetic inheritance patterns, our comprehensive ROR2 genetic test can provide the answers you need. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Book your ROR2 Gene Brachydactyly Type B1 NGS Genetic DNA Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health and make informed decisions about your family’s future.
