CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CREBBP gene, which are responsible for Rubinstein-Taybi syndrome (RTS). This rare genetic disorder affects approximately 1 in 100,000 to 125,000 newborns and is characterized by distinctive physical features, developmental delays, and intellectual disabilities. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting CREBBP gene mutations, enabling early diagnosis and appropriate intervention strategies.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the CREBBP (CREB-binding protein) gene located on chromosome 16p13.3. The test utilizes next-generation sequencing technology to identify:
- Point mutations, deletions, and insertions in the CREBBP gene
- Pathogenic variants affecting histone acetyltransferase function
- Genetic alterations disrupting normal embryonic development
- Mutations responsible for abnormal craniofacial development
- Genetic changes affecting limb formation and growth patterns
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of Rubinstein-Taybi syndrome, including:
- Infants and children with developmental delays and intellectual disabilities
- Individuals with distinctive facial features including downward-slanting eyes, beaked nose, and broad nasal bridge
- Patients with broad thumbs and first toes that are angulated outward
- Children with growth retardation and microcephaly
- Individuals with cardiac anomalies, renal abnormalities, or skeletal issues
- Those with a family history of Rubinstein-Taybi syndrome or similar developmental disorders
Benefits of CREBBP Genetic Testing
Undergoing CREBBP gene testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Rubinstein-Taybi syndrome with high precision
- Early Intervention: Enables timely implementation of appropriate therapies and educational support
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Medical Management: Guides comprehensive care planning for associated health complications
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for families
- Research Contribution: Helps advance understanding of CREBBP-related disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates a pathogenic mutation in the CREBBP gene, confirming Rubinstein-Taybi syndrome diagnosis
- Negative Result: Suggests absence of detectable CREBBP mutations, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further investigation
- Carrier Status: Determines if individuals carry CREBBP mutations that could be passed to offspring
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | CREBBP Gene Rubinstein-Taybi Syndrome 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 undergoing testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed pedigree chart
- Documentation of family members affected 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 collection centers ensures accessible testing for families nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate care and intervention. Our CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test provides the answers families need to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your genetic health.
