C12orf57 Gene Temtamy Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Developmental Disorders
The C12orf57 Gene Temtamy Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting development and growth. This advanced testing methodology utilizes next-generation sequencing technology to provide unparalleled accuracy in detecting mutations associated with Temtamy syndrome, a condition first described by Dr. Samia Temtamy that primarily affects skeletal development and cognitive function.
What This Test Measures and Detects
This specialized genetic test focuses exclusively on the C12orf57 gene located on chromosome 12, which plays a critical role in normal embryonic development and cellular function. The test employs sophisticated NGS technology to:
- Sequence the entire C12orf57 gene with high coverage and accuracy
- Identify point mutations, insertions, deletions, and other genetic variations
- Detect both inherited and de novo (new) mutations
- Provide comprehensive variant analysis with clinical correlation
- Offer insights into potential inheritance patterns for family planning
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following clinical features:
- Unexplained developmental delays in infancy or childhood
- Intellectual disability of unknown origin
- Distinctive facial dysmorphic features including hypertelorism, downslanting palpebral fissures, or broad nasal bridge
- Skeletal abnormalities such as short stature, brachydactyly, or joint limitations
- Family history of similar developmental concerns
- Previous negative results from standard genetic testing panels
- Children with multiple congenital anomalies without clear diagnosis
Significant Benefits of Genetic Testing
Undergoing the C12orf57 Gene Temtamy Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive answers for families seeking clarity about developmental concerns
- Personalized Medical Management: Enables targeted interventions and appropriate medical surveillance
- Family Planning Guidance: Offers valuable information for reproductive decision-making
- Early Intervention Opportunities: Facilitates timely access to developmental therapies and educational support
- Psychological Relief: Reduces diagnostic uncertainty and provides closure for families
- Research Contribution: Helps advance scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully understand your test results and their implications:
- Positive Result: Indicates a pathogenic mutation in the C12orf57 gene, confirming Temtamy syndrome diagnosis
- Negative Result: Suggests no disease-causing mutations were detected in the C12orf57 gene
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical significance requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed interpretation and recommendations from our board-certified genetic counselors to guide next steps in medical management and family planning.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Review of previous genetic testing results
- Discussion of potential outcomes and their meanings
Take the First Step Toward Genetic Clarity
Don’t let uncertainty about developmental concerns continue. Our specialized genetic testing provides the answers families need to make informed healthcare decisions and access appropriate support services. With our advanced NGS technology and expert genetic counseling team, you can trust that you’re receiving the most accurate and comprehensive genetic analysis available.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our compassionate team is ready to guide you through every step of the testing process and help you understand what your results mean for your family’s future.
