SMC1A Gene Cornelia de Lange Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Developmental Disorders
The SMC1A Gene Cornelia de Lange Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare developmental disorders. This advanced next-generation sequencing test specifically targets mutations in the SMC1A gene, which plays a critical role in chromosome cohesion and proper cellular division. Cornelia de Lange Syndrome Type 2 is a complex genetic condition affecting multiple body systems, and early accurate diagnosis through this test can significantly impact patient outcomes and family planning decisions.
What This Test Measures and Detects
Our SMC1A Gene Cornelia de Lange Syndrome Type 2 NGS Genetic DNA Test utilizes cutting-edge next-generation sequencing technology to comprehensively analyze the SMC1A gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the SMC1A gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Variants that disrupt the cohesin complex formation
- Genetic changes associated with Cornelia de Lange Syndrome Type 2
- Both inherited and de novo mutations in the SMC1A gene
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of Cornelia de Lange Syndrome Type 2, including:
- Infants and children with distinctive facial features (arched eyebrows, long eyelashes, thin lips)
- Individuals experiencing significant growth delays and failure to thrive
- Patients with intellectual disabilities and developmental delays
- Those exhibiting upper limb abnormalities and skeletal anomalies
- Individuals with gastrointestinal issues and feeding difficulties
- Patients with hearing loss and vision problems
- Children showing behavioral characteristics including autism spectrum features
- Individuals with a family history of Cornelia de Lange Syndrome
Significant Benefits of Genetic Testing
Undergoing the SMC1A Gene Cornelia de Lange Syndrome Type 2 NGS Genetic DNA Test offers numerous advantages for patients and their families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Cornelia de Lange Syndrome Type 2
- Early Intervention: Enables timely implementation of appropriate therapies and interventions
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides development of targeted treatment plans based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing medical research and understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic testing provides detailed results with expert interpretation:
- Positive Result: Indicates the presence of a pathogenic mutation in the SMC1A gene, confirming Cornelia de Lange Syndrome Type 2 diagnosis
- Negative Result: Suggests no detectable mutations in the SMC1A gene, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results include detailed explanations and recommendations for next steps, including genetic counseling sessions to discuss implications for family members and future pregnancies.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SMC1A Gene Cornelia de Lange Syndrome Type 2 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure accurate results with a turnaround time of 3 to 4 weeks.
Sample Collection and Preparation
Sample requirements for this test include:
- Blood sample
- Extracted DNA
- One drop of blood on FTA Card
Prior to testing, we recommend a genetic counseling session to document clinical history and create a detailed pedigree chart of family members affected by SMC1A-related conditions.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our expert genetic counselors and medical professionals are ready to assist you through every step of the testing process. Early genetic testing can make a significant difference in managing Cornelia de Lange Syndrome Type 2 and improving quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or to speak with our genetic counseling team. Take the first step toward understanding your genetic health and securing the best possible care for you and your family.
