TP63 Gene ADULT Syndrome Split Hand-Foot Malformation NGS Genetic DNA Test
Understanding TP63 Gene ADULT Syndrome
ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth syndrome) is a rare genetic disorder caused by mutations in the TP63 gene, which plays a critical role in embryonic development, particularly in limb formation and ectodermal tissue development. This comprehensive genetic test utilizes advanced Next-Generation Sequencing (NGS) technology to identify specific mutations in the TP63 gene that are responsible for this complex condition characterized by split hand-foot malformation and multiple system involvement.
What This Test Measures and Detects
Our TP63 Gene ADULT Syndrome NGS Genetic DNA Test provides comprehensive analysis of:
- Complete sequencing of the TP63 gene to identify pathogenic variants
- Detection of missense mutations commonly associated with ADULT syndrome
- Analysis of genetic variations affecting limb development pathways
- Identification of mutations impacting ectodermal tissue formation
- Assessment of inheritance patterns for family planning purposes
Clinical Significance of TP63 Gene Analysis
The TP63 gene encodes the tumor protein p63, a transcription factor essential for proper development of limbs, skin, teeth, and other ectodermal structures. Mutations in this gene disrupt normal developmental processes, leading to the characteristic features of ADULT syndrome, including split hand-foot malformation, ectodermal dysplasia, lacrimal duct obstruction, and dental abnormalities.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Congenital split hand or split foot malformations
- Ectodermal dysplasia features including sparse hair, abnormal nails
- Lacrimal duct obstruction or excessive tearing
- Dental abnormalities such as missing or malformed teeth
- Family history of similar limb or ectodermal abnormalities
- Unexplained combination of limb and ectodermal defects
- Suspected ADULT syndrome based on clinical presentation
Early Detection Benefits
Early genetic diagnosis through our TP63 gene test enables:
- Accurate syndrome identification and differentiation from similar conditions
- Appropriate medical management and treatment planning
- Early intervention for associated complications
- Informed family planning decisions
- Access to specialized care and support services
Key Benefits of TP63 Genetic Testing
Choosing our comprehensive TP63 gene analysis offers multiple advantages:
- Precise Diagnosis: Confirms ADULT syndrome with high accuracy
- Family Planning: Provides crucial information for genetic counseling
- Treatment Guidance: Helps tailor medical and surgical interventions
- Prognostic Information: Offers insights into disease progression
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Indicates a pathogenic mutation in the TP63 gene, confirming ADULT syndrome diagnosis
- Negative Result: Suggests absence of detectable TP63 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires further evaluation and family studies
- Carrier Status: Important for family members and reproductive planning
Post-Test Guidance
Following your test results, our genetic counselors provide:
- Detailed explanation of findings and their implications
- Recommendations for medical management and surveillance
- Family testing guidance and inheritance pattern explanation
- Referrals to appropriate specialists and support resources
- Long-term follow-up planning and monitoring strategies
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | TP63 Gene ADULT Syndrome Split Hand-Foot Malformation 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Documentation of affected family members
- Clinical photographs if available
- Previous medical records and test results
Nationwide Testing Availability
We have convenient testing locations across the United States, including major cities such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessible, reliable testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about ADULT syndrome affect your health decisions. Our comprehensive TP63 gene testing provides the answers you need for proper diagnosis and management. With our advanced NGS technology and expert genetic counseling support, you can make informed decisions about your health and family planning.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. Take control of your genetic health with confidence and clarity.
