TBX5 Gene Holt-Oram Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Heart-Hand Syndrome
The TBX5 Gene Holt-Oram Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by congenital heart and limb abnormalities. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the TBX5 gene, which plays a critical role in embryonic development of the heart and upper limbs.
What Does This Test Measure and Detect?
This specialized genetic test specifically targets and analyzes the TBX5 gene for mutations associated with Holt-Oram syndrome, also known as heart-hand syndrome. The test detects:
- Point mutations in the TBX5 gene coding regions
- Small insertions and deletions affecting gene function
- Genetic variations that disrupt normal cardiac and limb development
- Inherited and de novo mutations responsible for the syndrome
- Specific genetic markers linked to congenital heart defects
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with specific clinical indications:
- Patients with congenital heart defects, particularly atrial septal defects
- Individuals with upper limb abnormalities including thumb malformations
- Those with family history of Holt-Oram syndrome
- Children born with combined heart and limb defects
- Individuals with unexplained cardiac conduction abnormalities
- Patients undergoing genetic counseling for family planning
Clinical Symptoms and Indications
Common symptoms that warrant consideration of this test include:
- Congenital heart defects (ASD, VSD, conduction abnormalities)
- Upper limb malformations (absent or hypoplastic thumbs)
- Radial ray abnormalities of the forearm
- Family history of heart-hand syndrome
- Unexplained cardiac arrhythmias in young individuals
- Combined cardiac and skeletal abnormalities
Benefits of Taking the TBX5 Genetic Test
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Holt-Oram syndrome with high precision
- Family Planning Guidance: Provides critical information for genetic counseling
- Early Intervention: Enables proactive management of cardiac conditions
- Treatment Planning: Guides appropriate medical and surgical interventions
- Risk Assessment: Identifies at-risk family members for preventive care
- Peace of Mind: Reduces uncertainty about genetic inheritance patterns
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of a TBX5 gene mutation associated with Holt-Oram syndrome. This confirms the diagnosis and provides valuable information for medical management.
- Negative Result: Suggests that no disease-causing mutations were detected in the TBX5 gene. However, clinical correlation with symptoms is essential.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation.
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | TBX5 Gene Holt-Oram Syndrome 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 scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session completed
- Family pedigree chart documenting affected relatives
- Relevant medical records and previous test results
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 genetic testing facilities ensures accessible, reliable testing no matter where you’re located.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our comprehensive TBX5 genetic testing provides the answers you need for informed medical care and family planning. With our discounted price of only $500, advanced genetic testing is more accessible than ever.
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.
