PTEN Gene Cowden Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Cancer Risk Assessment
The PTEN Gene Cowden Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in hereditary cancer risk assessment, utilizing cutting-edge next-generation sequencing technology to identify mutations in the PTEN gene. This comprehensive genetic analysis provides critical insights into inherited cancer predisposition, enabling early intervention and personalized healthcare strategies for individuals and families at risk.
What Does This Test Measure?
This advanced genetic test specifically analyzes the PTEN (Phosphatase and TENsin homolog) gene, which functions as a crucial tumor suppressor in the human body. The test detects:
- Pathogenic mutations in the PTEN gene associated with Cowden syndrome
- Various types of genetic alterations including point mutations, deletions, and insertions
- Specific variants that disrupt normal tumor suppression mechanisms
- Inherited genetic patterns that increase cancer susceptibility
Who Should Consider This Test?
This genetic screening is particularly recommended for individuals exhibiting symptoms or having family history patterns consistent with Cowden syndrome, including:
- Multiple hamartomas (benign growths) throughout the body
- Macrocephaly (unusually large head size)
- Mucocutaneous lesions including trichilemmomas and papillomatous papules
- Personal history of thyroid, breast, or endometrial cancer
- Family history of Cowden syndrome or related conditions
- Early-onset cancers in multiple family members
- Developmental delays or autism spectrum disorders with associated physical features
Clinical Benefits of PTEN Genetic Testing
Undergoing PTEN gene testing provides numerous significant advantages for proactive health management:
- Early Cancer Risk Identification: Detect inherited cancer predisposition before symptoms develop
- Personalized Screening Protocols: Implement targeted cancer surveillance based on genetic risk
- Family Risk Assessment: Identify at-risk relatives who may benefit from genetic testing
- Informed Reproductive Decisions: Understand inheritance patterns for family planning
- Proactive Medical Management: Develop comprehensive healthcare strategies with your medical team
- Psychological Relief: Reduce uncertainty through definitive genetic information
Understanding Your Test Results
Your PTEN gene test results will fall into one of several categories, each with specific implications:
- Positive Result: Indicates a pathogenic PTEN mutation is present, confirming Cowden syndrome diagnosis and requiring enhanced cancer surveillance
- Negative Result: No PTEN mutation detected, though other genetic factors may still contribute to cancer risk
- Variant of Uncertain Significance (VUS): A genetic change with unknown clinical significance requiring ongoing monitoring and research
- Benign Variant: Common genetic variations not associated with increased disease risk
All results should be reviewed with a qualified genetic counselor or healthcare provider who can provide personalized interpretation and management recommendations.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PTEN Gene Cowden Syndrome Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing PTEN genetic testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with a certified genetic counselor
- Development of detailed family pedigree chart
- Discussion of potential implications and limitations of testing
- Informed consent process explaining benefits, risks, and alternatives
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.
Take Control of Your Genetic Health
Understanding your genetic predisposition to cancer through PTEN gene testing empowers you to make informed healthcare decisions and implement proactive screening strategies. Early detection of Cowden syndrome can significantly impact cancer prevention and management outcomes.
Ready to schedule your PTEN genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online to begin your journey toward comprehensive cancer risk assessment and personalized healthcare management.
