OBSL1 Gene Three M Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Growth Disorders
The OBSL1 Gene Three M Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare growth disorders. This specialized test utilizes cutting-edge next-generation sequencing technology to analyze the OBSL1 gene, which plays a critical role in cellular growth regulation and skeletal development. Three M Syndrome Type 2 is an autosomal recessive condition characterized by distinctive physical features and severe growth retardation, making accurate genetic diagnosis essential for proper medical management and family planning.
What Does This Test Measure?
This comprehensive genetic test specifically targets the OBSL1 gene located on chromosome 2q35, identifying pathogenic variants that cause Three M Syndrome Type 2. The test detects:
- Point mutations, insertions, and deletions in the OBSL1 gene
- Autosomal recessive inheritance patterns
- Genetic variants affecting the obscurin-like protein 1
- Mutations that disrupt normal growth regulation pathways
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following clinical features:
- Severe pre- and postnatal growth retardation
- Characteristic facial features including triangular face, prominent mouth, and hypoplastic midface
- Skeletal abnormalities such as slender long bones, vertebral anomalies, and short thorax
- Normal intelligence despite physical growth concerns
- Family history of similar growth patterns or consanguineous parents
- Unexplained short stature with normal growth hormone levels
Key Benefits of Genetic Testing
Undergoing the OBSL1 Gene Three M Syndrome Type 2 NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Three M Syndrome Type 2 with high accuracy
- Personalized Management: Enables targeted medical care and monitoring
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates timely medical management and support services
- Family Screening: Identifies carriers and assesses recurrence risks
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and delivered with comprehensive counseling:
- Positive Result: Identifies pathogenic variants in the OBSL1 gene, confirming Three M Syndrome Type 2 diagnosis
- Negative Result: No disease-causing mutations detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes requiring further evaluation
- Carrier Status: Identifies individuals with one copy of the mutated gene
All results include detailed explanations and recommendations for next steps, including referrals to appropriate specialists and support resources.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | OBSL1 Gene Three M Syndrome Type 2 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 |
| Specialty | Pediatrics, Genetics, Dysmorphology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing 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 network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about growth disorders affect your family’s future. The OBSL1 Gene Three M Syndrome Type 2 NGS Genetic DNA Test provides the answers you need for informed medical decisions and peace of mind. Our experienced team is ready to guide you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with confidence and clarity.
