CCDC8 Gene Three M Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Growth Disorders
The CCDC8 Gene Three M Syndrome Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Three M Syndrome Type 3, a rare autosomal recessive disorder characterized by significant growth abnormalities. This sophisticated genetic analysis utilizes Next-Generation Sequencing technology to provide comprehensive evaluation of the CCDC8 gene, which plays a crucial role in cellular growth regulation and skeletal development.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the CCDC8 gene located on chromosome 19q13.2. The test detects:
- Point mutations, insertions, and deletions in the CCDC8 gene
- Pathogenic variants associated with Three M Syndrome Type 3
- Autosomal recessive inheritance patterns
- Genetic markers affecting growth hormone pathways
- Variants impacting skeletal development and bone mineralization
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Severe pre- and postnatal growth retardation
- Proportionate short stature without endocrine abnormalities
- Distinctive facial features including triangular face, prominent forehead, and pointed chin
- Skeletal abnormalities such as slender long bones, vertebral anomalies, or chest deformities
- Family history of Three M Syndrome or consanguineous parents
- Unexplained growth failure despite normal growth hormone levels
- Developmental delays associated with skeletal dysmorphisms
Clinical Benefits of Genetic Testing
Undergoing the CCDC8 Gene Three M Syndrome Type 3 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Three M Syndrome Type 3 with high precision
- Treatment Guidance: Helps develop targeted management strategies for growth and development
- Prognostic Information: Provides insight into disease progression and potential complications
- Family Planning: Enables informed reproductive decisions through genetic counseling
- Early Intervention: Facilitates timely management of associated health concerns
- Differential Diagnosis: Distinguishes Three M Syndrome from other growth disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the CCDC8 gene, confirming Three M Syndrome Type 3 diagnosis
- Negative Result: Suggests absence of known disease-causing variants in the CCDC8 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results include comprehensive genetic counseling to help you understand the implications for your health and family members.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
- Specialty: Pediatrics and Genetics
- Testing Method: Next-Generation Sequencing (NGS) Technology
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with branches in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health
Don’t let uncertainty about genetic conditions affect your quality of life. Our expert team of genetic counselors and medical specialists are ready to guide you through the testing process and provide the answers you need for informed healthcare decisions.
Book your CCDC8 Gene Three M Syndrome Type 3 NGS Genetic DNA Test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health with confidence and clarity.
