FLNB Gene Atelosteogenesis Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Disorders
The FLNB Gene Atelosteogenesis Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal disorders. This advanced Next-Generation Sequencing (NGS) test specifically targets mutations in the FLNB (Filamin B) gene, which plays a critical role in skeletal development and bone formation. Atelosteogenesis Type 1 is a severe, often lethal skeletal dysplasia characterized by abnormal bone growth, particularly affecting the limbs, spine, and chest.
What Does This Test Measure and Detect?
This comprehensive genetic analysis detects specific mutations in the FLNB gene that are responsible for Atelosteogenesis Type 1. The test identifies:
- Point mutations in the FLNB gene coding regions
- Small insertions and deletions affecting protein function
- Genetic variations that disrupt filamin B protein structure
- Autosomal dominant mutations causing skeletal abnormalities
- Pathogenic variants associated with severe bone dysplasia
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Family history of skeletal dysplasia or bone disorders
- Newborns with severe limb shortening and bone abnormalities
- Individuals with suspected genetic skeletal conditions
- Couples with previous children affected by skeletal disorders
- Patients with unexplained bone development issues
- Those experiencing multiple miscarriages with skeletal abnormalities
Clinical Symptoms and Indications
Patients may exhibit symptoms including:
- Severe shortening of limbs (micromelia)
- Abnormal spinal curvature and vertebral anomalies
- Chest wall abnormalities affecting breathing
- Facial dysmorphism and cleft palate
- Joint dislocations and contractures
- Delayed bone ossification
Benefits of FLNB Genetic Testing
Accurate Diagnosis and Early Intervention
Early genetic diagnosis enables:
- Precise identification of the underlying genetic cause
- Appropriate medical management and treatment planning
- Genetic counseling for family planning decisions
- Prenatal diagnosis in subsequent pregnancies
- Improved understanding of disease progression
Comprehensive Genetic Analysis
Our NGS technology provides:
- High-resolution genetic sequencing
- Comprehensive coverage of the FLNB gene
- Accurate detection of various mutation types
- Reliable results with clinical validation
- Expert interpretation by genetic specialists
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of a pathogenic FLNB gene mutation associated with Atelosteogenesis Type 1. This confirms the genetic diagnosis and provides essential information for:
- Medical management strategies
- Family genetic counseling
- Reproductive planning options
- Potential therapeutic interventions
Negative Result Interpretation
A negative result suggests that no pathogenic FLNB mutations were detected. However, clinical correlation with symptoms and family history is essential, as other genetic or environmental factors may contribute to the condition.
Variant of Uncertain Significance
Some genetic variations may be classified as variants of uncertain significance (VUS). In such cases, additional family studies and clinical correlation may be recommended for proper interpretation.
Test Information and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | FLNB Gene Atelosteogenesis Type 1 NGS Genetic DNA Test | – |
| Discount Price | Special Limited Time Offer | $500 |
| Regular Price | Standard Testing Cost | $700 |
| Turnaround Time | Comprehensive Analysis Period | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card | – |
Nationwide Testing Availability
We have branches across all major cities in the USA, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session
- Family pedigree chart development
- Discussion of testing implications and limitations
Book Your Genetic Test Today
Take the first step toward accurate diagnosis and comprehensive genetic understanding. Our expert team of genetic counselors and medical professionals are ready to assist you throughout the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or discuss your testing needs with our genetic specialists.
Early genetic testing can provide crucial information for medical management and family planning decisions. Don’t wait – secure your genetic health future today with our comprehensive FLNB gene testing services.
