EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rubinstein-Taybi Syndrome
The EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the EP300 gene, which are responsible for causing Rubinstein-Taybi syndrome. This rare genetic disorder affects approximately 1 in 100,000 to 125,000 individuals and is characterized by distinctive physical features, developmental delays, and intellectual disabilities. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations, enabling precise diagnosis and personalized medical management.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the EP300 gene, which encodes the E1A binding protein p300—a crucial transcriptional coactivator involved in numerous cellular processes. The test utilizes next-generation sequencing (NGS) technology to:
- Identify point mutations, small insertions, and deletions in the EP300 gene
- Detect missense, nonsense, and frameshift mutations affecting protein function
- Analyze the entire coding region and splice sites of the EP300 gene
- Provide comprehensive coverage of all known pathogenic variants
- Offer high sensitivity and specificity for mutation detection
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical features suggestive of Rubinstein-Taybi syndrome, including:
- Infants and children with broad thumbs and toes
- Individuals with distinctive facial features including downward-slanting eyes, beaked nose, and high-arched palate
- Children experiencing developmental delays and intellectual disabilities
- Patients with growth retardation and microcephaly
- Individuals with congenital heart defects or other organ abnormalities
- Those with a family history of Rubinstein-Taybi syndrome
- Patients with unexplained intellectual disability and characteristic physical findings
Key Benefits of EP300 Genetic Testing
Undergoing EP300 gene testing provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out Rubinstein-Taybi syndrome with high precision
- Personalized Treatment: Enables targeted medical management and intervention strategies
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of developmental therapies and educational support
- Comprehensive Care: Guides multidisciplinary approach involving pediatricians, geneticists, and specialists
- Peace of Mind: Offers clarity and understanding of the underlying genetic cause
Understanding Your Test Results
Your EP300 gene test results will be carefully interpreted by our team of board-certified geneticists and molecular pathologists:
- Positive Result: Identification of a pathogenic mutation confirms the diagnosis of Rubinstein-Taybi syndrome and enables appropriate medical management
- Negative Result: Absence of detectable EP300 mutations may suggest alternative diagnoses or require additional testing
- Variant of Uncertain Significance: Some genetic changes may require further investigation and family studies
- Comprehensive Report: Detailed findings with clinical correlation and management recommendations
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified collection facilities ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
If you or your loved one exhibits symptoms suggestive of Rubinstein-Taybi syndrome, don’t delay in seeking genetic answers. Our EP300 Gene NGS Test provides the comprehensive analysis needed for accurate diagnosis and informed medical decision-making. Contact our genetic counseling team today to schedule your test and begin your journey toward understanding and managing this genetic condition.
Book your EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test today by calling our dedicated genetics hotline at +1(267) 388-9828 or schedule your appointment online. Our experienced genetic counselors are available to answer your questions and guide you through the testing process.
