TBX1 Gene DiGeorge Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for 22q11.2 Deletion Syndrome
The TBX1 Gene DiGeorge Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals suspected of having 22q11.2 deletion syndrome, commonly known as DiGeorge syndrome. This sophisticated genetic analysis utilizes next-generation sequencing (NGS) technology to examine the TBX1 gene, which plays a critical role in embryonic development and is frequently associated with this complex genetic condition.
What Does the Test Measure and Detect?
This advanced genetic test specifically targets the TBX1 gene located on chromosome 22, which is responsible for encoding the T-box transcription factor essential for proper development of the pharyngeal arches during embryonic growth. The test detects:
- Point mutations and small deletions/insertions in the TBX1 gene
- Genetic variations associated with 22q11.2 deletion syndrome
- Specific mutations that affect cardiac, immune, and craniofacial development
- Inheritance patterns and familial risk assessment
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of DiGeorge syndrome, including:
- Newborns with congenital heart defects, particularly conotruncal abnormalities
- Children with recurrent infections due to immune deficiencies
- Individuals with characteristic facial features including hooded eyelids, low-set ears, or cleft palate
- Patients with hypocalcemia or parathyroid abnormalities
- Children experiencing developmental delays or learning disabilities
- Individuals with feeding difficulties or growth retardation
- Those with a family history of 22q11.2 deletion syndrome
Benefits of Taking the TBX1 Gene Test
Early genetic diagnosis through the TBX1 Gene DiGeorge Syndrome NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive confirmation of 22q11.2 deletion syndrome
- Personalized Treatment: Enables targeted medical interventions for cardiac, immune, and endocrine issues
- Family Planning: Offers crucial information for genetic counseling and future family planning
- Early Intervention: Facilitates timely implementation of developmental therapies and educational support
- Comprehensive Care: Guides multidisciplinary medical management involving cardiology, immunology, and endocrinology specialists
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of TBX1 gene mutations associated with DiGeorge syndrome, requiring comprehensive medical follow-up
- Negative Result: Suggests that TBX1 gene mutations were not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
All results include detailed interpretation and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TBX1 Gene DiGeorge Syndrome NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and provide comprehensive support.
Book your TBX1 Gene DiGeorge Syndrome NGS Genetic DNA Test today by calling +1(267) 388-9828 or scheduling your appointment online. Take control of your genetic health with confidence and clarity.
