COLEC11 Gene 3MC Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Inherited Disorders
The COLEC11 Gene 3MC Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions. This specialized test utilizes cutting-edge Next-Generation Sequencing technology to analyze the COLEC11 gene, which plays a critical role in embryonic development and immune system function. 3MC syndrome type 2 is an autosomal recessive disorder characterized by multiple congenital anomalies affecting various body systems.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets mutations in the COLEC11 gene located on chromosome 2p25.3. The test detects:
- Pathogenic variants and mutations in the COLEC11 gene
- Single nucleotide polymorphisms (SNPs) associated with 3MC syndrome type 2
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations that cause the disorder
- Carrier status for family members
The COLEC11 gene encodes collectin-11, a protein essential for proper embryonic development, particularly in craniofacial structures, skeletal formation, and immune system regulation.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms suggestive of 3MC syndrome type 2, including:
- Craniofacial Abnormalities: Cleft lip/palate, hypertelorism, blepharophimosis
- Skeletal Malformations: Radioulnar synostosis, joint contractures, scoliosis
- Growth and Developmental Issues: Postnatal growth deficiency, developmental delay
- Immune System Concerns: Recurrent infections, immune deficiency symptoms
- Family History: Individuals with family members diagnosed with 3MC syndrome
- Reproductive Planning: Couples with family history seeking genetic counseling
Clinical Benefits of COLEC11 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out 3MC syndrome type 2 with high precision
- Personalized Treatment Planning: Enables targeted interventions for specific symptoms
- Family Genetic Counseling: Provides crucial information for reproductive decisions
- Early Intervention: Facilitates timely management of associated complications
- Carrier Detection: Identifies asymptomatic carriers within families
- Research Contribution: Adds to the growing understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the COLEC11 gene, confirming 3MC syndrome type 2 diagnosis
- Negative Result: Suggests no detectable mutations in the COLEC11 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Detects individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer the COLEC11 Gene 3MC Syndrome Type 2 NGS Genetic DNA Test across all major cities in the United States, including:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Our state-of-the-art genetic testing facilities ensure consistent, reliable results regardless of your location.
Sample Collection and Processing
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Turnaround Time: 3 to 4 Weeks
Pre-test Requirements: Complete clinical history and genetic counseling session to create family pedigree chart
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your health decisions. The COLEC11 Gene 3MC Syndrome Type 2 NGS Genetic DNA Test provides the clarity and confidence you need for informed medical choices and family planning.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated genetic specialists are ready to guide you through every step of the process, from initial consultation to comprehensive result interpretation.
Take the first step toward genetic clarity and personalized healthcare management. Contact us today to learn more about this advanced diagnostic tool and how it can benefit you and your family.
