LTBP2 Gene Weill-Marchesani Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Weill-Marchesani Syndrome
The LTBP2 Gene Weill-Marchesani Syndrome Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals affected by this rare connective tissue disorder. Utilizing state-of-the-art Next-Generation Sequencing (NGS) technology, this comprehensive test provides definitive identification of mutations in the LTBP2 gene, which plays a critical role in extracellular matrix formation and ocular development.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and analyzes the LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2) gene for pathogenic variants associated with Weill-Marchesani Syndrome Type 3. The test detects:
- Point mutations, insertions, and deletions in the LTBP2 gene
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Copy number variations and structural rearrangements
The LTBP2 gene encodes a protein essential for proper microfibril assembly in connective tissues, particularly in the eye’s lens and zonular fibers. Mutations in this gene disrupt normal development, leading to the characteristic features of Weill-Marchesani Syndrome.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Ocular Abnormalities: Microspherophakia (small spherical lenses), ectopia lentis (lens dislocation), severe myopia, glaucoma
- Skeletal Features: Short stature, brachydactyly (short fingers and toes), joint stiffness and limited mobility
- Facial Characteristics: Brachycephaly (short head), prominent forehead, hypertelorism (widely spaced eyes)
- Family History: Individuals with known family history of Weill-Marchesani Syndrome or related connective tissue disorders
- Unexplained Developmental Delays: Children with unexplained short stature and ocular abnormalities
Clinical Benefits of LTBP2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Weill-Marchesani Syndrome Type 3 with high accuracy
- Personalized Treatment Planning: Enables targeted management strategies for ocular and skeletal complications
- Early Intervention: Facilitates timely treatment to prevent vision loss and manage joint limitations
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Differential Diagnosis: Helps distinguish from other connective tissue disorders with overlapping features
- Prognostic Information: Offers insights into disease progression and potential complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Identification of a pathogenic LTBP2 mutation confirms the diagnosis of Weill-Marchesani Syndrome Type 3. This information guides specialized care from ophthalmologists, orthopedic specialists, and genetic counselors.
- Negative Result: Absence of detectable LTBP2 mutations suggests alternative diagnoses should be considered, though does not completely rule out the condition in all cases.
- Variant of Uncertain Significance (VUS): Some genetic changes may require additional family studies or functional analysis to determine clinical significance.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms, important for family planning decisions.
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
Pre-Test Requirements
Before undergoing testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Accessibility
We have conveniently located branches across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, and many other cities. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your quality of life. Our LTBP2 Gene Weill-Marchesani Syndrome Type 3 NGS Genetic DNA Test provides the answers you need for informed medical decisions and personalized care planning.
Book your genetic 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 with comprehensive, accurate testing from America’s leading genetics laboratory.
