FBN2 Gene Contractural Arachnodactyly Congenital NGS Genetic DNA Test
Comprehensive Genetic Analysis for Connective Tissue Disorders
The FBN2 Gene Contractural Arachnodactyly Congenital NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FBN2 gene, which are responsible for congenital contractural arachnodactyly (CCA). This condition, also known as Beals syndrome, is a rare genetic disorder affecting connective tissues throughout the body. Our advanced next-generation sequencing technology provides comprehensive analysis of the FBN2 gene, enabling accurate diagnosis and personalized treatment planning.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the FBN2 gene located on chromosome 5q23, which encodes the fibrillin-2 protein essential for proper connective tissue formation and function. The test utilizes next-generation sequencing (NGS) technology to:
- Sequence the entire coding region of the FBN2 gene
- Identify point mutations, insertions, deletions, and splice site variants
- Detect pathogenic variants associated with congenital contractural arachnodactyly
- Provide comprehensive mutation analysis with high sensitivity and specificity
- Enable differentiation from similar connective tissue disorders like Marfan syndrome
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with clinical features suggestive of congenital contractural arachnodactyly or those with a family history of the condition. Key indications include:
- Newborns and children with congenital joint contractures, particularly affecting knees, elbows, and fingers
- Individuals displaying arachnodactyly (unusually long, slender fingers and toes)
- Patients with crumpled ears or abnormal ear cartilage formation
- Those experiencing scoliosis or other spinal abnormalities
- Individuals with musculoskeletal abnormalities and connective tissue manifestations
- Family members of individuals diagnosed with FBN2-related disorders
- Couples with family history of CCA considering family planning
Clinical Benefits of FBN2 Genetic Testing
Undergoing FBN2 genetic testing provides numerous clinical advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out congenital contractural arachnodactyly with high accuracy
- Personalized Treatment: Enables targeted management strategies based on specific genetic findings
- Early Intervention: Facilitates timely implementation of physical therapy and orthopedic interventions
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Differential Diagnosis: Helps distinguish CCA from other connective tissue disorders with overlapping features
- Prognostic Information: Offers insights into potential disease progression and complications
- Research Contribution: Contributes to ongoing understanding of FBN2-related disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information to guide your healthcare decisions:
- Positive Result: Indicates the presence of a pathogenic FBN2 mutation confirming congenital contractural arachnodactyly diagnosis. This result enables targeted management and surveillance for associated complications.
- Negative Result: Suggests that no pathogenic FBN2 variants were detected, though clinical correlation remains essential as some mutations may not be identified by current testing methods.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies for clarification.
- Carrier Status: For family members, testing can identify asymptomatic carriers who may pass the condition to offspring.
All results include detailed interpretation by our board-certified genetic specialists and recommendations for appropriate follow-up care.
Test Pricing and Sample Requirements
| Test Feature | Details |
|---|---|
| Test Name | FBN2 Gene Contractural Arachnodactyly Congenital NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Types | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Comprehensive clinical history documentation of the patient
- Genetic counseling session to discuss testing implications and create a detailed family pedigree
- Informed consent process explaining test benefits, limitations, and potential outcomes
- Discussion of insurance coverage and financial considerations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection facilities ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about connective tissue symptoms affect your quality of life. Our FBN2 genetic test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive analysis, you’ll receive definitive genetic information to guide your treatment journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your FBN2 Gene Contractural Arachnodactyly Congenital NGS Genetic DNA Test. Our genetic specialists are ready to answer your questions and help you take control of your genetic health.
