CUL7 Gene Three M Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Growth Disorders
The CUL7 Gene Three M Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CUL7 gene, which is responsible for Three M Syndrome Type 1. This rare autosomal recessive disorder affects growth and development, making early and accurate diagnosis crucial for proper management and treatment planning.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the CUL7 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the CUL7 gene
- Autosomal recessive inheritance patterns
- Pathogenic variants associated with Three M Syndrome Type 1
- Genetic markers for pre- and postnatal growth restriction
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained short stature and growth retardation
- Characteristic facial features including triangular face, prominent forehead, and hypoplastic midface
- Skeletal abnormalities such as slender long bones, vertebral anomalies, or chest deformities
- Family history of Three M Syndrome or consanguineous parents
- Developmental delays with normal intelligence
- Prenatal diagnosis for at-risk pregnancies
Clinical Benefits of Testing
Undergoing the CUL7 Gene Three M Syndrome Type 1 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Three M Syndrome Type 1 with high precision
- Personalized Treatment: Enables targeted growth hormone therapy and skeletal management
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely management of associated health complications
- Peace of Mind: Reduces diagnostic uncertainty and unnecessary medical investigations
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic CUL7 gene mutations confirming Three M Syndrome Type 1 diagnosis
- Negative Result: Suggests absence of detectable mutations in the CUL7 gene, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of the mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CUL7 Gene Three M Syndrome Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of test implications and potential outcomes
- Informed consent process completion
Nationwide Accessibility
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, and many more cities. Our network of certified genetic counselors and healthcare professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about growth disorders and skeletal abnormalities affect your quality of life. Our CUL7 Gene Three M Syndrome Type 1 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your health journey.
Our dedicated team of genetic specialists is ready to guide you through the testing process, answer your questions, and provide the support you need every step of the way. Book your appointment now and benefit from our current promotional pricing of $500 USD.
