TP63 Gene Limb Mammary Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Limb and Breast Development Disorders
The TP63 Gene Limb Mammary Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with limb mammary syndrome. This rare genetic disorder affects multiple body systems, primarily impacting limb development and breast tissue formation. Our advanced testing methodology utilizes next-generation sequencing technology to deliver precise, reliable results that empower patients and healthcare providers with critical genetic information.
What Does This Test Measure?
This specialized genetic test specifically targets the TP63 gene, which plays a crucial role in embryonic development and tissue formation. The test detects:
- Pathogenic variants in the TP63 gene sequence
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertions and deletions that disrupt normal protein production
- Missense mutations that alter the p63 protein structure
- Frameshift mutations leading to premature protein termination
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with specific clinical features or family history patterns:
- Patients with congenital limb abnormalities including ectrodactyly (split hand/foot)
- Individuals with breast tissue hypoplasia or aplasia
- Patients with lacrimal duct abnormalities or other ectodermal defects
- Those with family history of limb mammary syndrome
- Individuals with unexplained combinations of limb and breast abnormalities
- Couples planning pregnancy with known family history of TP63 mutations
Clinical Symptoms and Indications
Limb mammary syndrome manifests through various physical characteristics that may indicate the need for genetic testing:
- Split hand/foot malformation (ectrodactyly)
- Underdeveloped or absent breast tissue
- Nipple abnormalities or absence
- Cleft lip and/or palate
- Dental anomalies and enamel defects
- Hair and nail abnormalities
- Skin pigmentation changes
- Growth retardation in some cases
Benefits of TP63 Genetic Testing
Undergoing TP63 gene testing provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out limb mammary syndrome with high precision
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Personalized Management: Enables tailored treatment approaches based on genetic findings
- Early Intervention: Facilitates timely medical and surgical interventions
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully understand your test results:
- Positive Result: Indicates the presence of a pathogenic TP63 mutation, confirming limb mammary syndrome diagnosis
- Negative Result: Suggests no detectable TP63 mutation, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry mutations that could affect future generations
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| TP63 Gene Limb Mammary Syndrome NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Test Specifications
- 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 and Genetics
- Department: Genetics
- Disease Classification: Dysmorphology
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart documenting family members affected by limb mammary syndrome
- Informed consent for genetic testing
Nationwide Testing Availability
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, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our TP63 Gene Limb Mammary Syndrome NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
