TAZ Gene Barth Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Barth Syndrome
The TAZ Gene Barth Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the TAZ (Tafazzin) gene, which is responsible for Barth syndrome. This rare X-linked genetic disorder primarily affects males and is characterized by distinctive cardiovascular and metabolic abnormalities. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variants that contribute to this complex condition.
What Does the TAZ Gene Barth Syndrome Test Measure?
This comprehensive genetic analysis specifically targets the TAZ gene located on the X chromosome, examining it for pathogenic variants that disrupt normal cardiolipin remodeling in mitochondrial membranes. The test detects:
- Point mutations, deletions, and insertions in the TAZ gene
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Large genomic rearrangements impacting gene function
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Unexplained dilated cardiomyopathy in infancy or childhood
- Recurrent neutropenia and susceptibility to infections
- Growth delays and failure to thrive
- Family history of Barth syndrome or X-linked inheritance patterns
- Unexplained muscle weakness and fatigue
- Metabolic abnormalities affecting energy production
Clinical Benefits of TAZ Gene Testing
Early genetic diagnosis through our NGS-based TAZ gene test offers numerous advantages:
- Enables early intervention and targeted treatment strategies
- Provides accurate genetic counseling for family planning
- Facilitates carrier testing for at-risk female relatives
- Guides personalized medical management approaches
- Reduces diagnostic uncertainty and unnecessary testing
- Supports enrollment in clinical trials and research studies
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic TAZ gene mutation, confirming Barth syndrome diagnosis and enabling appropriate medical management
- Negative Result: Suggests no detectable TAZ gene mutation, though clinical correlation with symptoms remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: For female relatives, determines risk of passing the condition to offspring
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before scheduling your TAZ Gene Barth Syndrome NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications and potential outcomes
- Informed consent process completion
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and cardiology specialists ensures comprehensive care coordination.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our experienced genetic specialists are ready to guide you through the testing process and provide the clarity necessary for informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TAZ Gene Barth Syndrome NGS Genetic DNA Test and take the first step toward genetic clarity and personalized medical care.
