TBX5 Full Length Gene Sequence Analysis for Holt-Oram Syndrome
Comprehensive Genetic Testing for Heart and Limb Abnormalities
The TBX5 Full Length Gene Sequence Analysis represents a cutting-edge genetic diagnostic tool specifically designed to identify mutations in the TBX5 gene associated with Holt-Oram Syndrome. This rare autosomal dominant disorder affects approximately 1 in 100,000 live births and is characterized by congenital heart defects and upper limb malformations. Our advanced testing methodology provides definitive diagnosis, enabling early intervention and personalized treatment planning for affected individuals and their families.
What Does the TBX5 Gene Test Detect?
This comprehensive genetic analysis examines the complete coding region of the TBX5 gene, which plays a crucial role in embryonic development of the heart and upper limbs. The test specifically identifies:
- Point mutations affecting TBX5 gene function
- Small insertions or deletions within the gene sequence
- Missense, nonsense, and frameshift mutations
- Genetic variations affecting cardiac and skeletal development
- Inherited and de novo mutations causing Holt-Oram Syndrome
Who Should Consider TBX5 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with specific clinical features or family history patterns:
- Patients with congenital heart defects, particularly atrial or ventricular septal defects
- Individuals with upper limb abnormalities including thumb anomalies, radial ray defects, or phocomelia
- Family members of individuals diagnosed with Holt-Oram Syndrome
- Pregnant women with abnormal fetal ultrasound findings suggesting heart or limb defects
- Individuals planning pregnancy with family history of congenital heart-limb syndromes
- Patients with unexplained cardiac conduction abnormalities
Clinical Benefits of TBX5 Genetic Analysis
Undergoing TBX5 Full Length Gene Sequence Analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Holt-Oram Syndrome with high accuracy
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely medical and surgical management
- Risk Assessment: Identifies at-risk family members for proactive monitoring
- Personalized Care: Guides specialized cardiac and orthopedic treatment plans
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your TBX5 gene analysis:
- Positive Result: Identifies a pathogenic mutation in the TBX5 gene, confirming Holt-Oram Syndrome diagnosis
- Negative Result: No mutation detected, significantly reducing likelihood of Holt-Oram Syndrome
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family members
All results include detailed clinical interpretation and recommendations from our board-certified genetic specialists. Genetic counseling is available to help you understand the implications of your test results for your health and family planning.
Test Pricing and Sample Requirements
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TBX5 Full Length Gene Sequence Analysis for Holt-Oram Syndrome | $938 USD | $1250 USD |
Turnaround Time: 4-6 weeks
Sample Types: Peripheral blood, Amniotic Fluid, Chorionic villi, Cord blood
Test Components: Sterile container, Sterile Normal Saline Container, EDTA Vacutainer (2ml)
Prescription Requirements: Doctor’s prescription required (not applicable for surgery, pregnancy cases, or international travel planning)
Nationwide Testing Availability
We have comprehensive testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality genetic analysis with rapid turnaround times.
Take the Next Step in Your Genetic Health Journey
Don’t let uncertainty about genetic conditions affect your health decisions. Our TBX5 Full Length Gene Sequence Analysis provides the clarity you need for informed medical management and family planning. With advanced Sanger Sequencing technology and expert genetic interpretation, we deliver reliable results you can trust.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our genetic specialists are available to answer your questions and guide you through the testing process. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetic diagnostics provider.
