MASP1 Gene 3MC Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Genetic Disorders
The MASP1 Gene 3MC Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the MASP1 gene, which are responsible for 3MC syndrome type 1. This rare autosomal recessive disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the MASP1 gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the MASP1 gene
- Variants associated with 3MC syndrome type 1 manifestations
- Genetic changes affecting the lectin complement pathway
- Inheritance patterns through family genetic analysis
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of 3MC syndrome type 1, including:
- Characteristic facial features such as hypertelorism, cleft lip/palate, and frontal bossing
- Skeletal abnormalities including craniosynostosis and joint contractures
- Developmental delays and intellectual disabilities
- Recurrent infections due to immune system deficiencies
- Family history of similar symptoms or confirmed 3MC syndrome
- Unexplained combination of skeletal, facial, and immune system abnormalities
Clinical Benefits of Genetic Testing
Undergoing the MASP1 Gene 3MC Syndrome Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out 3MC syndrome type 1 with high precision
- Personalized Treatment: Enables targeted medical management based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely medical interventions and specialized care
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to scientific understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into these categories:
- Positive Result: Identifies pathogenic variants in the MASP1 gene, confirming 3MC syndrome type 1 diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals carrying one copy of the mutated gene without disease symptoms
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient 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 testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of 3MC syndrome type 1, don’t delay in seeking genetic answers. Our team of genetic specialists is ready to provide comprehensive testing, counseling, and support throughout your diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your MASP1 Gene 3MC Syndrome Type 1 NGS Genetic DNA Test and take control of your genetic health.
