LAMA3 Gene Laryngoonychocutaneous Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin and Respiratory Disorders
The LAMA3 Gene Laryngoonychocutaneous Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited disorders. This advanced test specifically targets mutations in the LAMA3 gene, which encodes laminin alpha-3 chain, a critical component of the basement membrane in skin, respiratory tract, and other epithelial tissues. Understanding your genetic profile through this test can provide life-changing insights into managing this complex condition.
What Does This Test Measure and Detect?
This comprehensive NGS-based genetic test analyzes the entire coding region of the LAMA3 gene to identify pathogenic variants responsible for Laryngoonychocutaneous Syndrome (LOC Syndrome). The test specifically detects:
- Point mutations, insertions, and deletions in the LAMA3 gene
- Autosomal recessive inheritance patterns
- Variants affecting laminin-332 protein formation
- Genetic markers associated with epithelial basement membrane defects
- Mutations leading to abnormal skin, nail, and respiratory tissue development
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Clinical Symptoms: Chronic skin erosions and blistering, nail dystrophy, hoarse voice or stridor, recurrent respiratory infections, conjunctival involvement, and dental abnormalities
- Family History: Individuals with family members diagnosed with LOC Syndrome or similar epithelial disorders
- Differential Diagnosis: Patients being evaluated for epidermolysis bullosa, junctional epidermolysis bullosa, or other inherited skin disorders
- Reproductive Planning: Couples with family history of LOC Syndrome considering pregnancy
Key Benefits of LAMA3 Genetic Testing
Undergoing this genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out LOC Syndrome with high precision
- Personalized Treatment: Enables targeted management strategies for skin, respiratory, and ocular complications
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Comprehensive Care Planning: Helps multidisciplinary teams coordinate optimal patient care
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and provided with comprehensive guidance:
- Positive Result: Indicates the presence of pathogenic LAMA3 mutations confirming LOC Syndrome diagnosis
- Negative Result: Suggests absence of detectable LAMA3 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for interpretation
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but may not show symptoms
All results include detailed explanations and recommendations for next steps, including referral to appropriate specialists and genetic counseling services.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| LAMA3 Gene Laryngoonychocutaneous Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| LAMA3 Gene Laryngoonychocutaneous Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic testing facilities ensures accessible, reliable testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our LAMA3 Gene Laryngoonychocutaneous Syndrome NGS Genetic DNA Test provides the clarity required for informed medical decisions and personalized care planning. With our discounted price of $500 and comprehensive genetic analysis, you can access cutting-edge diagnostic technology without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Note: Turnaround time for results is 3-4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on FTA card. Pre-test requirements include clinical history documentation and genetic counseling session for pedigree analysis.
